Variant report

Variant	nsv883273
Chromosome Location	chr5:179045142-179086833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1884)
CpG islands
(count:2138)
Chromatin interactive
region (count:131)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1884 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179050384-179051395	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179050517-179051101	K562	blood:	n/a	n/a
3	ARID3A	chr5:179047999-179048543	K562	blood:	n/a	n/a
4	ARID3A	chr5:179047974-179048174	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:179049834-179049852	HepG2	liver:	n/a	n/a
6	ATF1	chr5:179050468-179051119	K562	blood:	n/a	n/a
7	ATF1	chr5:179047959-179048200	K562	blood:	n/a	n/a
8	ATF2	chr5:179049574-179050244	GM12878	blood:	n/a	n/a
9	ATF2	chr5:179050391-179050766	GM12878	blood:	n/a	n/a
10	ATF2	chr5:179051421-179051783	GM12878	blood:	n/a	n/a
11	ATF2	chr5:179049625-179049972	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr5:179047366-179048473	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr5:179047633-179048223	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr5:179050264-179051406	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr5:179050344-179051153	GM12878	blood:	n/a	n/a
16	ATF2	chr5:179050213-179051373	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr5:179050487-179050999	K562	blood:	n/a	chr5:179050860-179050868 chr5:179050752-179050763 chr5:179050752-179050763
18	ATF3	chr5:179050321-179051196	A549	lung:	n/a	chr5:179050860-179050868 chr5:179050453-179050462 chr5:179051127-179051136 chr5:179050752-179050763 chr5:179050752-179050763 chr5:179051153-179051162
19	ATF3	chr5:179049703-179049934	K562	blood:	n/a	n/a
20	ATF3	chr5:179050328-179050988	A549	lung:	n/a	chr5:179050860-179050868 chr5:179050453-179050462 chr5:179050752-179050763 chr5:179050752-179050763
21	ATF3	chr5:179050495-179050833	K562	blood:	n/a	chr5:179050752-179050763 chr5:179050752-179050763
22	BACH1	chr5:179085535-179085713	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr5:179047959-179048059	K562	blood:	n/a	n/a
24	BACH1	chr5:179050488-179051342	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr5:179085577-179085757	K562	blood:	n/a	n/a
26	BACH1	chr5:179050135-179050722	K562	blood:	n/a	n/a
27	BCL11A	chr5:179084946-179085204	GM12878	blood:	n/a	chr5:179085108-179085117
28	BCL11A	chr5:179061309-179061567	GM12878	blood:	n/a	chr5:179061479-179061492 chr5:179061431-179061440
29	BCL3	chr5:179049584-179051163	A549	lung:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
30	BCL3	chr5:179049851-179051235	A549	lung:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
31	BCLAF1	chr5:179049980-179051777	GM12878	blood:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
32	BCLAF1	chr5:179049582-179051089	K562	blood:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
33	BCLAF1	chr5:179049937-179050978	GM12878	blood:	n/a	chr5:179050801-179050814 chr5:179050406-179050419
34	BHLHE40	chr5:179085609-179085785	K562	blood:	n/a	n/a
35	BHLHE40	chr5:179075535-179075759	HepG2	liver:	n/a	n/a
36	BHLHE40	chr5:179050428-179052142	K562	blood:	n/a	chr5:179050726-179050742 chr5:179050734-179050750
37	BHLHE40	chr5:179049747-179051701	GM12878	blood:	n/a	chr5:179050726-179050742 chr5:179050734-179050750
38	BHLHE40	chr5:179049688-179050173	K562	blood:	n/a	n/a
39	BHLHE40	chr5:179075505-179075756	K562	blood:	n/a	n/a
40	BHLHE40	chr5:179050447-179051710	HepG2	liver:	n/a	chr5:179050726-179050742 chr5:179050734-179050750
41	BRCA1	chr5:179050560-179051215	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr5:179050491-179051131	GM12878	blood:	n/a	n/a
43	BRCA1	chr5:179050071-179050249	HepG2	liver:	n/a	n/a
44	BRCA1	chr5:179050451-179050813	HepG2	liver:	n/a	n/a
45	BRCA1	chr5:179048136-179048400	Hela-S3	cervix:	n/a	n/a
46	BRCA1	chr5:179049779-179051759	Hela-S3	cervix:	n/a	n/a
47	CBX3	chr5:179049666-179050285	K562	blood:	n/a	n/a
48	CBX3	chr5:179085381-179086051	K562	blood:	n/a	n/a
49	CBX3	chr5:179059301-179059582	K562	blood:	n/a	n/a
50	CBX3	chr5:179084502-179085318	K562	blood:	n/a	n/a

(count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179050811-179050861	MCF10A-Er-Src	breast:	n/a
2	chr5:179050666-179050716	NT2-D1	testis:	n/a
3	chr5:179049816-179049866	PrEC	prostate:	n/a
4	chr5:179050811-179050861	MCF10A-Er-Src	breast:	n/a
5	chr5:179050666-179050716	NT2-D1	testis:	n/a
6	chr5:179049816-179049866	PrEC	prostate:	n/a
7	chr5:179050963-179051013	MCF10A-Er-Src	breast:	n/a
8	chr5:179071604-179071654	H1-hESC	embryonic stem cell:	embryo
9	chr5:179050864-179050914	K562	blood:	n/a
10	chr5:179050814-179050864	HCPEpiC	choroid plexus:	n/a
11	chr5:179072791-179072841	HAEpiC	amniotic membrane:	n/a
12	chr5:179061027-179061077	GM12878	blood:	n/a
13	chr5:179061027-179061077	ProgFib	skin:	n/a
14	chr5:179069308-179069358	HEEpiC	esophagus:	n/a
15	chr5:179050814-179050864	AG09309	skin:	n/a
16	chr5:179061027-179061077	AoSMC	blood vessel:	n/a
17	chr5:179083592-179083642	NB4	blood:	n/a
18	chr5:179071901-179071951	HCT-116	colon:	n/a
19	chr5:179049997-179050047	HCT-116	colon:	n/a
20	chr5:179049816-179049866	IMR90	lung:	fetal
21	chr5:179061027-179061077	HCT-116	colon:	n/a
22	chr5:179071901-179071951	BE2_C	brain:	n/a
23	chr5:179049997-179050047	NT2-D1	testis:	n/a
24	chr5:179082448-179082498	A549	lung:	n/a
25	chr5:179049816-179049866	SK-N-SH_RA	brain:	n/a
26	chr5:179059426-179059476	AG09309	skin:	n/a
27	chr5:179072791-179072841	NHDF-neo	bronchial:	n/a
28	chr5:179071604-179071654	SKMC	muscle:	n/a
29	chr5:179069308-179069358	MCF-7	breast:	n/a
30	chr5:179050722-179050772	HRCEpiC	kidney:	n/a
31	chr5:179050811-179050861	AG10803	skin:	n/a
32	chr5:179050752-179050802	HRE	kidney:	n/a
33	chr5:179059668-179059718	AoSMC	blood vessel:	n/a
34	chr5:179059426-179059476	HCPEpiC	choroid plexus:	n/a
35	chr5:179050814-179050864	HUVEC	blood vessel:	n/a
36	chr5:179072247-179072297	HNPCEpiC	eye:	n/a
37	chr5:179050752-179050802	MCF10A-Er-Src	breast:	n/a
38	chr5:179048967-179049017	PrEC	prostate:	n/a
39	chr5:179050530-179050580	PANC-1	pancreas:	n/a
40	chr5:179051885-179051935	K562	blood:	n/a
41	chr5:179054073-179054123	SK-N-SH_RA	brain:	n/a
42	chr5:179056596-179056646	GM12878	blood:	n/a
43	chr5:179050530-179050580	Hepatocyte	liver:	n/a
44	chr5:179048967-179049017	SAEC	small airway:	n/a
45	chr5:179082448-179082498	PFSK-1	brain:	n/a
46	chr5:179051583-179051633	HRCEpiC	kidney:	n/a
47	chr5:179048967-179049017	NT2-D1	testis:	n/a
48	chr5:179050814-179050864	LNCaP	prostate:	n/a
49	chr5:179072791-179072841	MCF-7	breast:	n/a
50	chr5:179056596-179056646	AoSMC	blood vessel:	n/a

(count:131 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr17:19290294..19291294-chr5:179049393..179050117,2	MCF-7	breast:
2	chr2:27631911..27632482-chr5:179050149..179050971,2	Hela-S3	cervix:
3	chr5:179047558..179053114-chr5:179123905..179129187,22	K562	blood:
4	chr5:179065572..179067135-chr5:179078949..179080962,2	K562	blood:
5	chr15:72523714..72524571-chr5:179050555..179051464,2	Hela-S3	cervix:
6	chr5:179047581..179051358-chr5:179102429..179108878,16	K562	blood:
7	chr3:169490515..169491748-chr5:179050171..179051136,3	Hela-S3	cervix:
8	chr5:179049088..179052063-chr5:179245796..179250145,6	MCF-7	breast:
9	chr5:179048380..179051829-chr5:179074872..179077735,3	K562	blood:
10	chr19:41945329..41945925-chr5:179050076..179050730,2	Hela-S3	cervix:
11	chr5:178989508..178991362-chr5:179048413..179051335,2	MCF-7	breast:
12	chr5:179023314..179026919-chr5:179048927..179051890,4	MCF-7	breast:
13	chr1:31538258..31538790-chr5:179050270..179050828,2	Hela-S3	cervix:
14	chr4:170947377..170948002-chr5:179050154..179050702,2	HCT-116	colon:
15	chr10:75011910..75012711-chr5:179050548..179051140,2	Hela-S3	cervix:
16	chr5:179054324..179056626-chr5:179057842..179060388,3	MCF-7	breast:
17	chr5:179050402..179051097-chr7:43965768..43966440,3	Hela-S3	cervix:
18	chr5:179048548..179052839-chr5:179221765..179224480,6	MCF-7	breast:
19	chr3:182510926..182511584-chr5:179050129..179050994,2	Hela-S3	cervix:
20	chr5:179050227..179051149-chrX:150565416..150566413,2	Hela-S3	cervix:
21	chr17:6544136..6544702-chr5:179049920..179051003,3	Hela-S3	cervix:
22	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
23	chr5:179049356..179051389-chr5:179221894..179224407,2	MCF-7	breast:
24	chr5:178976591..178978128-chr5:179049452..179051597,2	MCF-7	breast:
25	chr5:179049028..179050758-chr5:179230503..179232044,2	K562	blood:
26	chr5:179048168..179052824-chr5:179156969..179161337,9	MCF-7	breast:
27	chr5:179048811..179053260-chr5:179101652..179108160,8	MCF-7	breast:
28	chr15:101834614..101835570-chr5:179050040..179051063,4	Hela-S3	cervix:
29	chr5:179049178..179050682-chr5:179227339..179229062,2	MCF-7	breast:
30	chr5:179048487..179050192-chr5:179084037..179087067,3	K562	blood:
31	chr1:44411130..44412112-chr5:179050533..179051528,2	Hela-S3	cervix:
32	chr5:179050178..179050824-chrX:129402282..129402896,2	Hela-S3	cervix:
33	chr19:39897504..39898591-chr5:179050003..179050948,4	Hela-S3	cervix:
34	chr12:69079995..69080788-chr5:179050562..179051077,2	Hela-S3	cervix:
35	chr3:135915193..135916031-chr5:179050193..179051036,2	Hela-S3	cervix:
36	chr5:178993088..178996882-chr5:179048174..179052059,4	K562	blood:
37	chr5:179050226..179050844-chr9:131266873..131267568,2	Hela-S3	cervix:
38	chr5:43041321..43041891-chr5:179049955..179050804,2	Hela-S3	cervix:
39	chr1:54871772..54872321-chr5:179050452..179051337,2	Hela-S3	cervix:
40	chr15:41836411..41836975-chr5:179050328..179051025,2	HCT-116	colon:
41	chr5:179050662..179051255-chr7:5569791..5570511,2	Hela-S3	cervix:
42	chr2:61403577..61406142-chr5:179049162..179051575,2	MCF-7	breast:
43	chr15:69753495..69755844-chr5:179048677..179051620,2	MCF-7	breast:
44	chr19:17666398..17667291-chr5:179049846..179050455,2	Hela-S3	cervix:
45	chr10:32734712..32735666-chr5:179050160..179050931,2	Hela-S3	cervix:
46	chr5:178882272..178884920-chr5:179049238..179052060,2	K562	blood:
47	chr3:57741840..57742425-chr5:179050507..179051038,2	Hela-S3	cervix:
48	chr5:179049533..179052334-chr5:179104256..179107492,4	MCF-7	breast:
49	chr17:73178705..73180897-chr5:179050924..179052648,2	MCF-7	breast:
50	chr5:179049837..179051764-chr5:179334057..179336513,2	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf60-1	chr5:179070431-179070491	NONHSAT105607
2	lnc-C5orf60-1	chr5:179070431-179072008	NONHSAT105606
3	lnc-C5orf60-1	chr5:179068545-179070211	NONHSAT105606
4	lnc-AC136604.1-1	chr5:179084763-179085098	XLOC_004677
5	lnc-C5orf60-2	chr5:179060893-179061158	NONHSAT105605
6	lnc-C5orf60-1	chr5:179071946-179072008	NONHSAT105607
7	lnc-AC136604.1-1	chr5:179085390-179085482	XLOC_004677
8	lnc-AC136604.1-1	chr5:179085079-179085482	XLOC_004677
9	lnc-C5orf60-1	chr5:179071332-179071842	NONHSAT105608
10	lnc-AC136604.1-1	chr5:179085237-179085482	XLOC_004677
11	lnc-C5orf60-1	chr5:179069896-179070211	NONHSAT105607
12	lnc-AC136604.1-1	chr5:179085266-179085482	XLOC_004677
13	lnc-C5orf60-1	chr5:179071030-179071087	NONHSAT105607
14	lnc-C5orf60-1	chr5:179071946-179072008	NONHSAT105608
15	lnc-C5orf60-2	chr5:179061450-179061474	NONHSAT105605

No data

Variant related genes	Relation type
ENSG00000250999	TF binding region
C5orf60	TF binding region
ENSG00000228259	TF binding region
HNRNPH1	TF binding region
ENSG00000250999	CpG island
C5orf60	CpG island
ENSG00000228259	CpG island
HNRNPH1	CpG island
ENSG00000166482	chromatin interactions
ENSG00000213316	chromatin interactions
ENSG00000157216	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000119392	chromatin interactions
ENSG00000183155	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000085274	chromatin interactions
ENSG00000078967	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000129235	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000136003	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000271969	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000135245	chromatin interactions
ENSG00000116199	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000056277	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000125247	chromatin interactions
ENSG00000273184	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000134644	chromatin interactions
ENSG00000237950	chromatin interactions
ENSG00000250999	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000228259	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000267498	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000216937	chromatin interactions
ENSG00000207708	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000172765	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000165182	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000119487	chromatin interactions
ENSG00000245750	chromatin interactions
ENSG00000240063	chromatin interactions
ENSG00000215068	chromatin interactions
ENSG00000207713	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000188612	chromatin interactions
ENSG00000184831	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000058063	chromatin interactions
ENSG00000204659	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000134717	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000247363	chromatin interactions
ENSG00000083720	chromatin interactions
ENSG00000160131	chromatin interactions
ENSG00000131876	chromatin interactions
ENSG00000111581	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000103932	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000106608	chromatin interactions
ENSG00000117862	chromatin interactions
ENSG00000261777	chromatin interactions
ENSG00000240758	chromatin interactions
ENSG00000108599	chromatin interactions
ENSG00000198920	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000140264	chromatin interactions
ENSG00000157184	chromatin interactions
ENSG00000163681	chromatin interactions
ENSG00000136813	chromatin interactions
ENSG00000103855	chromatin interactions
ENSG00000103249	chromatin interactions
ENSG00000198948	chromatin interactions
ENSG00000130309	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000182180	chromatin interactions
ENSG00000227540	chromatin interactions
ENSG00000215271	chromatin interactions
ENSG00000146457	chromatin interactions
ENSG00000259215	chromatin interactions
ENSG00000115241	chromatin interactions
KRAS	miRNA target sites

Extended variants
information (count: 1818 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1818 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4701143	chr5:179045142-179045143	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs199693294	chr5:179045196-179045197	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537555525	chr5:179045254-179045255	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs34431802	chr5:179045270-179045271	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371854732	chr5:179045294-179045295	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs151148785	chr5:179045302-179045303	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs139054831	chr5:179045321-179045322	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182942730	chr5:179045387-179045388	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs13189501	chr5:179045389-179045390	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs187194364	chr5:179045402-179045403	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148215698	chr5:179045421-179045422	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs577971562	chr5:179045431-179045432	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191900681	chr5:179045487-179045488	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11373117	chr5:179045488-179045489	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs397977615	chr5:179045489-179045490	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs563502048	chr5:179045519-179045520	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs184149290	chr5:179045530-179045531	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563247063	chr5:179045549-179045550	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528912602	chr5:179045687-179045688	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560521536	chr5:179045712-179045713	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187681856	chr5:179045727-179045728	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs192659842	chr5:179045738-179045739	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546220853	chr5:179045750-179045751	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559606987	chr5:179045765-179045766	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs114471407	chr5:179045767-179045768	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185611325	chr5:179045777-179045778	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs570240146	chr5:179045864-179045865	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs376913227	chr5:179045866-179045867	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs375349879	chr5:179045893-179045894	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537115567	chr5:179045924-179045925	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs549519180	chr5:179046000-179046001	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs567788264	chr5:179046045-179046046	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs190519427	chr5:179046066-179046067	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535008715	chr5:179046072-179046073	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553452618	chr5:179046096-179046097	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577813403	chr5:179046113-179046114	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs538934281	chr5:179046122-179046123	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556847162	chr5:179046128-179046129	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs181561909	chr5:179046133-179046134	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs184198019	chr5:179046161-179046162	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188903155	chr5:179046170-179046171	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs181355904	chr5:179046234-179046235	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs377153881	chr5:179046247-179046248	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs3615	chr5:179046258-179046259	Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368255507	chr5:179046442-179046443	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs186428663	chr5:179046492-179046493	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs368058238	chr5:179046521-179046522	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533418073	chr5:179046538-179046539	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs542036181	chr5:179046540-179046541	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs371189831	chr5:179046545-179046546	Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1442 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178987600-179045600	Strong transcription	Fetal Intestine Small	intestine
2	chr5:178987800-179045600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:179002200-179045600	Strong transcription	Fetal Intestine Large	intestine
4	chr5:179011000-179045600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:179012600-179047000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr5:179014000-179046000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:179028200-179046200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:179028400-179046000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:179028600-179046200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:179029200-179045600	Strong transcription	Primary B cells from cord blood	blood
11	chr5:179031000-179045600	Strong transcription	Osteobl	bone
12	chr5:179031000-179046200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:179032200-179045800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:179032200-179046400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:179032400-179045600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr5:179032400-179047400	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr5:179033600-179046000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr5:179034200-179046600	Strong transcription	Colonic Mucosa	Colon
19	chr5:179035200-179045200	Strong transcription	Fetal Brain Female	brain
20	chr5:179035600-179045200	Strong transcription	Brain Hippocampus Middle	brain
21	chr5:179035800-179046200	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr5:179036000-179045200	Strong transcription	NHEK	skin
23	chr5:179036000-179046000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:179036200-179045200	Strong transcription	Brain Angular Gyrus	brain
25	chr5:179036400-179046200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:179036800-179045600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr5:179036800-179046200	Strong transcription	HSMMtube	muscle
28	chr5:179037000-179045600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:179037200-179046000	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:179037200-179046000	Strong transcription	Ovary	ovary
31	chr5:179037400-179045800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:179037600-179045800	Strong transcription	Brain Anterior Caudate	brain
33	chr5:179037600-179046400	Strong transcription	Spleen	Spleen
34	chr5:179037800-179045800	Genic enhancers	NHLF	lung
35	chr5:179038000-179045400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr5:179038600-179045600	Strong transcription	Fetal Stomach	stomach
37	chr5:179038800-179045400	Strong transcription	Fetal Brain Male	brain
38	chr5:179039200-179045600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:179039800-179046800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:179040800-179045200	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:179041000-179046200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr5:179041000-179047400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr5:179041000-179047400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr5:179041200-179045200	Strong transcription	Psoas Muscle	Psoas
45	chr5:179041200-179045400	Strong transcription	Lung	lung
46	chr5:179041200-179048600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr5:179041600-179046000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr5:179041800-179046200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr5:179042000-179046200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:179042200-179046400	Strong transcription	Esophagus	oesophagus

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