Variant report

Variant	esv2829850
Chromosome Location	chr5:178828854-179060995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5080)
CpG islands
(count:6352)
Chromatin interactive
region (count:300)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:5080 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:179049834-179049852	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:179047974-179048174	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:178985842-178986538	HepG2	liver:	n/a	n/a
4	ARID3A	chr5:178977590-178977818	HepG2	liver:	n/a	n/a
5	ARID3A	chr5:178920984-178921396	HepG2	liver:	n/a	n/a
6	ARID3A	chr5:179050384-179051395	HepG2	liver:	n/a	n/a
7	ARID3A	chr5:179050517-179051101	K562	blood:	n/a	n/a
8	ARID3A	chr5:178921008-178921368	K562	blood:	n/a	n/a
9	ARID3A	chr5:178977115-178977357	HepG2	liver:	n/a	n/a
10	ARID3A	chr5:178931255-178932227	HepG2	liver:	n/a	n/a
11	ARID3A	chr5:179039599-179040147	K562	blood:	n/a	n/a
12	ARID3A	chr5:179047999-179048543	K562	blood:	n/a	n/a
13	ATF1	chr5:179050468-179051119	K562	blood:	n/a	n/a
14	ATF1	chr5:179047959-179048200	K562	blood:	n/a	n/a
15	ATF2	chr5:179051421-179051783	GM12878	blood:	n/a	n/a
16	ATF2	chr5:179039483-179040827	GM12878	blood:	n/a	n/a
17	ATF2	chr5:179050391-179050766	GM12878	blood:	n/a	n/a
18	ATF2	chr5:178971353-178972009	GM12878	blood:	n/a	n/a
19	ATF2	chr5:179047633-179048223	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr5:178977014-178977777	GM12878	blood:	n/a	n/a
21	ATF2	chr5:178976968-178977468	GM12878	blood:	n/a	n/a
22	ATF2	chr5:179039487-179041008	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF2	chr5:179050344-179051153	GM12878	blood:	n/a	n/a
24	ATF2	chr5:178986020-178986776	H1-hESC	embryonic stem cell:	n/a	n/a
25	ATF2	chr5:179049574-179050244	GM12878	blood:	n/a	n/a
26	ATF2	chr5:179039460-179040795	GM12878	blood:	n/a	n/a
27	ATF2	chr5:178971356-178971893	GM12878	blood:	n/a	n/a
28	ATF2	chr5:179034170-179034702	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr5:179047366-179048473	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr5:179049625-179049972	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr5:179050264-179051406	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr5:178960873-178961287	GM12878	blood:	n/a	n/a
33	ATF2	chr5:179050213-179051373	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr5:178985934-178986763	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF3	chr5:179050328-179050988	A549	lung:	n/a	chr5:179050860-179050868 chr5:179050453-179050462 chr5:179050752-179050763 chr5:179050752-179050763
36	ATF3	chr5:179039699-179040073	K562	blood:	n/a	n/a
37	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
38	ATF3	chr5:179049703-179049934	K562	blood:	n/a	n/a
39	ATF3	chr5:179050487-179050999	K562	blood:	n/a	chr5:179050860-179050868 chr5:179050752-179050763 chr5:179050752-179050763
40	ATF3	chr5:179050495-179050833	K562	blood:	n/a	chr5:179050752-179050763 chr5:179050752-179050763
41	BACH1	chr5:178867641-178867777	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr5:179050135-179050722	K562	blood:	n/a	n/a
43	BACH1	chr5:179050488-179051342	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr5:178977696-178978347	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr5:178976363-178976432	K562	blood:	n/a	n/a
46	BACH1	chr5:179047959-179048059	K562	blood:	n/a	n/a
47	BACH1	chr5:178957142-178957774	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr5:178945312-178945640	GM12878	blood:	n/a	n/a
49	BCL11A	chr5:178945316-178945685	GM12878	blood:	n/a	n/a
50	BCL11A	chr5:178971422-178971880	GM12878	blood:	n/a	chr5:178971650-178971659

(count:6352 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179040265-179040315	U87	brain:	n/a
2	chr5:179050811-179050861	HCM	heart:	n/a
3	chr5:178977236-178977286	SK-N-SH_RA	brain:	n/a
4	chr5:179050826-179050876	ovcar-3	ovarian:	n/a
5	chr5:178986620-178986670	MCF-7	breast:	n/a
6	chr5:178986830-178986880	MCF-7	breast:	n/a
7	chr5:178987429-178987479	SKMC	muscle:	n/a
8	chr5:178854502-178854552	HCM	heart:	n/a
9	chr5:179040265-179040315	U87	brain:	n/a
10	chr5:179050811-179050861	HCM	heart:	n/a
11	chr5:178977236-178977286	SK-N-SH_RA	brain:	n/a
12	chr5:179050826-179050876	ovcar-3	ovarian:	n/a
13	chr5:178986620-178986670	MCF-7	breast:	n/a
14	chr5:178986830-178986880	MCF-7	breast:	n/a
15	chr5:178987429-178987479	SKMC	muscle:	n/a
16	chr5:178854502-178854552	HCM	heart:	n/a
17	chr5:178899789-178899839	HEK293	kidney:	embryo
18	chr5:178987429-178987479	A549	lung:	n/a
19	chr5:178957880-178957930	RPTEC	kidney:	n/a
20	chr5:178899789-178899839	MCF-7	breast:	n/a
21	chr5:179042080-179042130	GM19239	blood:	n/a
22	chr5:178950795-178950845	A549	lung:	n/a
23	chr5:179050826-179050876	H1-hESC	embryonic stem cell:	embryo
24	chr5:179040212-179040262	PFSK-1	brain:	n/a
25	chr5:178957434-178957484	HCPEpiC	choroid plexus:	n/a
26	chr5:179048527-179048577	HPAEpiC	pulmonary alveolar:	n/a
27	chr5:178950855-178950905	HNPCEpiC	eye:	n/a
28	chr5:179048527-179048577	AG04449	skin:	fetal
29	chr5:179032532-179032582	ovcar-3	ovarian:	n/a
30	chr5:178977236-178977286	HL-60	blood:	n/a
31	chr5:178956838-178956888	AG09319	gingival:	n/a
32	chr5:179050530-179050580	HAEpiC	amniotic membrane:	n/a
33	chr5:178835980-178836030	AG04450	lung:	fetal
34	chr5:178899812-178899862	SKMC	muscle:	n/a
35	chr5:179050722-179050772	RPTEC	kidney:	n/a
36	chr5:178960377-178960427	PANC-1	pancreas:	n/a
37	chr5:178986906-178986956	HCF	heart:	n/a
38	chr5:179006403-179006453	IMR90	lung:	fetal
39	chr5:178957598-178957648	AG10803	skin:	n/a
40	chr5:179030634-179030684	SK-N-SH	brain:	n/a
41	chr5:178977326-178977376	IMR90	lung:	fetal
42	chr5:178986906-178986956	GM12878	blood:	n/a
43	chr5:178956838-178956888	IMR90	lung:	fetal
44	chr5:179051568-179051618	T-47D	breast:	n/a
45	chr5:178957434-178957484	HCT-116	colon:	n/a
46	chr5:178960377-178960427	HCPEpiC	choroid plexus:	n/a
47	chr5:179003843-179003893	SK-N-MC	brain:	n/a
48	chr5:179004535-179004585	Hepatocyte	liver:	n/a
49	chr5:179050722-179050772	Caco-2	colon:	n/a
50	chr5:178960377-178960427	RPTEC	kidney:	n/a

(count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr5:178976811..178980871-chr5:179039605..179043375,3	K562	blood:
2	chr17:65990788..65993719-chr5:179039587..179041527,2	MCF-7	breast:
3	chr5:178989508..178991362-chr5:179048413..179051335,2	MCF-7	breast:
4	chr3:135915193..135916031-chr5:179050193..179051036,2	Hela-S3	cervix:
5	chr1:52521773..52522432-chr5:179050336..179051228,2	Hela-S3	cervix:
6	chr5:178871548..178873217-chr5:178880850..178883062,2	MCF-7	breast:
7	chr5:179034167..179038139-chr5:179125249..179127406,3	MCF-7	breast:
8	chr5:179023716..179025532-chr5:179027753..179029789,2	K562	blood:
9	chr11:67777145..67777897-chr5:179050213..179051026,2	Hela-S3	cervix:
10	chr5:178979685..178981490-chr5:178983248..178984975,2	K562	blood:
11	chr5:178840253..178841953-chr5:178842013..178844118,2	K562	blood:
12	chr5:178892938..178894678-chr5:178896634..178898137,2	K562	blood:
13	chr5:178953283..178956112-chr5:178976067..178979094,3	MCF-7	breast:
14	chr5:178979685..178981490-chr5:178983248..178984975,2	K562	blood:
15	chr5:179025448..179027889-chr5:179124592..179127416,2	MCF-7	breast:
16	chr3:169490515..169491748-chr5:179050171..179051136,3	Hela-S3	cervix:
17	chr5:178975690..178977861-chr5:179029775..179032308,2	K562	blood:
18	chr5:178923732..178926017-chr5:178977562..178979960,2	MCF-7	breast:
19	chr5:179023314..179026919-chr5:179048927..179051890,4	MCF-7	breast:
20	chr5:178975751..178978306-chr5:178993914..178996502,2	MCF-7	breast:
21	chr5:178977541..178979171-chr5:179015422..179017966,2	K562	blood:
22	chr17:25620732..25621732-chr5:179050078..179050762,2	Hela-S3	cervix:
23	chr5:178980836..178983768-chr5:179095589..179098241,2	MCF-7	breast:
24	chr5:178979256..178982161-chr5:178989561..178991785,2	K562	blood:
25	chr5:179049295..179049929-chr5:179095089..179095660,2	K562	blood:
26	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
27	chr5:178967564..178969306-chr5:178978047..178979581,2	K562	blood:
28	chr5:178984119..178986610-chr5:178999493..179002273,3	K562	blood:
29	chr5:178837251..178839356-chr5:178856114..178858488,2	MCF-7	breast:
30	chr5:178947804..178950473-chr5:178974779..178977233,2	MCF-7	breast:
31	chr16:1524716..1525606-chr5:179049896..179050517,2	Hela-S3	cervix:
32	chr12:56509933..56510823-chr5:179048605..179049245,2	Hela-S3	cervix:
33	chr5:179047959..179050192-chr5:179084037..179087067,3	K562	blood:
34	chr5:178976329..178981059-chr5:179123787..179127407,6	K562	blood:
35	chr5:178960272..178962115-chr5:178969166..178970829,2	MCF-7	breast:
36	chr1:178994809..178995971-chr5:179049840..179051236,5	Hela-S3	cervix:
37	chr5:178989647..178992005-chr5:179000001..179001767,2	K562	blood:
38	chr5:179037627..179040262-chr5:179091207..179093202,2	K562	blood:
39	chr5:179020501..179022389-chr5:179025199..179026893,2	K562	blood:
40	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
41	chr11:62609117..62609653-chr5:179050747..179051683,2	NB4	blood:
42	chr5:178993088..178996882-chr5:179048174..179052059,4	K562	blood:
43	chr5:178951884..178954426-chr5:179031332..179033126,2	MCF-7	breast:
44	chr5:178966233..178969209-chr5:178970782..178972509,2	MCF-7	breast:
45	chr5:178976288..178979908-chr5:179158372..179161228,3	MCF-7	breast:
46	chr1:147806382..147807268-chr5:179050164..179050669,2	Hela-S3	cervix:
47	chr5:179050470..179051106-chr9:128469032..128469737,2	HCT-116	colon:
48	chr5:179034995..179037887-chr5:179124544..179128614,3	K562	blood:
49	chr5:179036525..179040506-chr5:179125503..179127596,3	K562	blood:
50	chr5:179015557..179018325-chr5:179025854..179028795,2	K562	blood:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HNRNPH1-2	chr5:178949497-178950926	ENSG00000251657
2	lnc-RUFY1-4	chr5:178950418-178950475	NONHSAT105586
3	lnc-HNRNPH1-4	chr5:178975273-178975507	expReg_chr5_10798_-
4	lnc-HNRNPH1-1	chr5:179029065-179029267	ENSG00000244945.1
5	lnc-HNRNPH1-1	chr5:179022905-179023594	ENSG00000244945.1
6	lnc-HNRNPH1-3	chr5:178942465-178942580	ENSG00000253652
7	lnc-HNRNPH1-2	chr5:178951450-178952173	ENSG00000251657
8	lnc-HNRNPH1-1	chr5:179023823-179023962	ENSG00000244945.1
9	lnc-C5orf60-2	chr5:179060893-179061158	NONHSAT105605
10	lnc-HNRNPH1-1	chr5:179026486-179026636	ENSG00000244945.1
11	lnc-RUFY1-4	chr5:178950374-178950475	NONHSAT105587
12	lnc-HNRNPH1-1	chr5:179030608-179030742	ENSG00000244945.1
13	lnc-RUFY1-1	chr5:178882416-178882818	XLOC_004674
14	lnc-HNRNPH1-3	chr5:178930323-178930741	ENSG00000253652
15	lnc-HNRNPH1-1	chr5:179026269-179026390	ENSG00000244945.1
16	lnc-HNRNPH1-1	chr5:179025254-179025356	ENSG00000244945.1
17	lnc-RUFY1-3	chr5:178971224-178972983	NONHSAT105589
18	lnc-ADAMTS2-2	chr5:178893834-178894126	NONHSAT105584
19	lnc-HNRNPH1-1	chr5:179027074-179027099	ENSG00000244945.1
20	lnc-AC136604.1-5	chr5:178999157-178999742	NONHSAT105590
21	lnc-RUFY1-4	chr5:178949401-178949705	NONHSAT105586
22	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105587
23	lnc-HNRNPH1-1	chr5:179029378-179029773	ENSG00000244945.1
24	lnc-RUFY1-1	chr5:178882939-178883096	XLOC_004674
25	lnc-RUFY1-4	chr5:178951021-178952136	NONHSAT105586

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNRNPH1	hsa-miR-21-5p	chr5:179041360-179041381

Variant related genes	Relation type
PRDX2P3	TF binding region
ENSG00000250674	TF binding region
RN7SL71P	TF binding region
ENSG00000251545	TF binding region
ENSG00000244945	TF binding region
ENSG00000253520	TF binding region
RUFY1	TF binding region
ENSG00000253652	TF binding region
HNRNPH1	TF binding region
PRDX2P3	CpG island
ENSG00000250674	CpG island
RN7SL71P	CpG island
ENSG00000251545	CpG island
ENSG00000244945	CpG island
ENSG00000253520	CpG island
RUFY1	CpG island
ENSG00000253652	CpG island
HNRNPH1	CpG island
ENSG00000215271	chromatin interactions
ENSG00000174579	chromatin interactions
ENSG00000213316	chromatin interactions
ENSG00000227963	chromatin interactions
ENSG00000161021	chromatin interactions
ENSG00000237950	chromatin interactions
ENSG00000259215	chromatin interactions
ENSG00000225051	chromatin interactions
ENSG00000134717	chromatin interactions
ENSG00000247363	chromatin interactions
ENSG00000267498	chromatin interactions
ENSG00000257084	chromatin interactions
ENSG00000161013	chromatin interactions
ENSG00000116199	chromatin interactions
ENSG00000216937	chromatin interactions
ENSG00000135245	chromatin interactions
ENSG00000141562	chromatin interactions
ENSG00000083720	chromatin interactions
ENSG00000204659	chromatin interactions
ENSG00000215068	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000184831	chromatin interactions
ENSG00000265458	chromatin interactions
ENSG00000248275	chromatin interactions
ENSG00000260456	chromatin interactions
ENSG00000160131	chromatin interactions
ENSG00000117862	chromatin interactions
ENSG00000056277	chromatin interactions
ENSG00000115241	chromatin interactions
ENSG00000240063	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000126749	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000161011	chromatin interactions
ENSG00000166482	chromatin interactions
ENSG00000129235	chromatin interactions
ENSG00000240758	chromatin interactions
ENSG00000173209	chromatin interactions
ENSG00000119392	chromatin interactions
ENSG00000126903	chromatin interactions
ENSG00000197226	chromatin interactions
ENSG00000266176	chromatin interactions
ENSG00000103249	chromatin interactions
ENSG00000245750	chromatin interactions
ENSG00000207708	chromatin interactions
ENSG00000163681	chromatin interactions
ENSG00000198948	chromatin interactions
ENSG00000136003	chromatin interactions
ENSG00000078967	chromatin interactions
ENSG00000125247	chromatin interactions
ENSG00000253617	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000165182	chromatin interactions
ENSG00000207713	chromatin interactions
ENSG00000188612	chromatin interactions
ENSG00000085274	chromatin interactions
ENSG00000131876	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000251545	chromatin interactions
ENSG00000250999	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000264205	chromatin interactions
ENSG00000228259	chromatin interactions
ENSG00000146457	chromatin interactions
ENSG00000169045	chromatin interactions
ENSG00000146063	chromatin interactions
ENSG00000106608	chromatin interactions
ENSG00000157184	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000259172	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000271969	chromatin interactions
ENSG00000157216	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000182180	chromatin interactions
ENSG00000176783	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000140264	chromatin interactions
ENSG00000130309	chromatin interactions
ENSG00000249140	chromatin interactions
ENSG00000162775	chromatin interactions
ENSG00000103855	chromatin interactions
ENSG00000139644	chromatin interactions
ENSG00000270006	chromatin interactions
ENSG00000221394	chromatin interactions
ENSG00000103932	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000273184	chromatin interactions
ENSG00000167716	chromatin interactions
ENSG00000227540	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000183718	chromatin interactions
ENSG00000168872	chromatin interactions
ENSG00000134644	chromatin interactions
ENSG00000244945	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000250674	chromatin interactions
ENSG00000119487	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000172765	chromatin interactions
ENSG00000261777	chromatin interactions
ENSG00000111581	chromatin interactions
ENSG00000108599	chromatin interactions
ENSG00000058063	chromatin interactions
ENSG00000136813	chromatin interactions
ENSG00000127022	chromatin interactions
ENSG00000264732	chromatin interactions
ENSG00000253520	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000198920	chromatin interactions
ENSG00000112096	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000183155	chromatin interactions
GAPVD1	miRNA target sites
PIGU	miRNA target sites

Extended variants
information (count: 10820 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:10820 , 50 per page) page: 1 2 3 4 5 6 7 ... 217

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186682585	chr5:178829659-178829660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538455078	chr5:178829669-178829670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550377126	chr5:178829688-178829689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568819398	chr5:178829783-178829784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535764182	chr5:178829873-178829874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554405447	chr5:178829879-178829880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11738978	chr5:178829906-178829907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112845901	chr5:178829933-178829934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191478143	chr5:178829938-178829939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557847412	chr5:178829940-178829941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562108579	chr5:178829983-178829984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576114660	chr5:178830008-178830009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543238662	chr5:178830011-178830012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555137269	chr5:178830017-178830018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182852037	chr5:178830037-178830038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373986023	chr5:178830039-178830040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187877504	chr5:178830041-178830042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559551298	chr5:178830090-178830091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532811846	chr5:178830130-178830131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139130420	chr5:178830150-178830151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563405216	chr5:178830159-178830160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577143632	chr5:178830164-178830165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189676303	chr5:178830182-178830183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550438365	chr5:178830232-178830233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568680984	chr5:178830238-178830239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529444988	chr5:178830257-178830258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200290006	chr5:178830258-178830259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398000073	chr5:178830267-178830268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62396788	chr5:178830270-178830271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9329073	chr5:178830284-178830285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561442237	chr5:178830292-178830293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566330618	chr5:178830303-178830304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115706227	chr5:178830373-178830374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182252511	chr5:178830406-178830407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569860869	chr5:178830481-178830482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75792983	chr5:178830514-178830515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558850564	chr5:178830526-178830527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576823	chr5:178830540-178830541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs9329074	chr5:178830574-178830575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541192757	chr5:178830589-178830590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553007128	chr5:178830602-178830603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149449998	chr5:178830672-178830673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116344233	chr5:178830689-178830690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563264779	chr5:178830696-178830697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577883	chr5:178830704-178830705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144146563	chr5:178830726-178830727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188069150	chr5:178830729-178830730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192444357	chr5:178830759-178830760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529482258	chr5:178830771-178830772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578640	chr5:178830774-178830775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:4908 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178829600-178833200	Weak transcription	Ovary	ovary
2	chr5:178830400-178830600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:178831200-178831400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:178831200-178831400	Enhancers	Osteobl	bone
5	chr5:178831600-178832200	Enhancers	Spleen	Spleen
6	chr5:178831800-178832000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr5:178831800-178832000	Bivalent Enhancer	Fetal Stomach	stomach
8	chr5:178832200-178832600	Weak transcription	Spleen	Spleen
9	chr5:178832200-178832800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:178832200-178834800	Enhancers	Fetal Muscle Leg	muscle
11	chr5:178832600-178832800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:178832600-178832800	Enhancers	Spleen	Spleen
13	chr5:178832600-178835200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr5:178832800-178833400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:178832800-178833600	Bivalent Enhancer	Fetal Stomach	stomach
16	chr5:178832800-178834400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr5:178832800-178834600	Weak transcription	Spleen	Spleen
18	chr5:178832800-178835200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:178833000-178833200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:178833000-178834800	Enhancers	Placenta	Placenta
21	chr5:178833000-178835000	Enhancers	Fetal Lung	lung
22	chr5:178833200-178833600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:178833200-178833800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:178833200-178834200	Enhancers	NHDF-Ad	bronchial
25	chr5:178833200-178834800	Enhancers	Ovary	ovary
26	chr5:178833200-178835000	Enhancers	Adipose Nuclei	Adipose
27	chr5:178833200-178835800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:178833400-178834600	Enhancers	Osteobl	bone
29	chr5:178833400-178834800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:178833400-178835000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:178833400-178835200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:178833400-178835800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:178833600-178834000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:178833600-178835200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:178833600-178835400	Enhancers	Fetal Stomach	stomach
36	chr5:178833800-178834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:178833800-178834600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:178833800-178834800	Enhancers	Fetal Intestine Small	intestine
39	chr5:178834000-178834600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:178834200-178834800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:178834400-178834600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:178834400-178834600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr5:178834400-178834800	Enhancers	Colonic Mucosa	Colon
44	chr5:178834400-178835200	Enhancers	Right Atrium	heart
45	chr5:178834600-178834800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr5:178834600-178835200	Enhancers	Spleen	Spleen
47	chr5:178834800-178837600	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:178835200-178836800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:178835200-178837200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:178835200-178840600	Weak transcription	Spleen	Spleen

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