Variant report

Variant	nsv597934
Chromosome Location	chr5:44803749-44834233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:904)
CpG islands
(count:854)
Chromatin interactive
region (count:44)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:44808606-44809530	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:44809867-44810155	K562	blood:	n/a	n/a
3	ARID3A	chr5:44808615-44809027	K562	blood:	n/a	n/a
4	ATF1	chr5:44807350-44807613	K562	blood:	n/a	n/a
5	ATF1	chr5:44806365-44807047	K562	blood:	n/a	n/a
6	ATF1	chr5:44808659-44809228	K562	blood:	n/a	n/a
7	ATF2	chr5:44808557-44809157	GM12878	blood:	n/a	n/a
8	ATF2	chr5:44808643-44809367	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr5:44808694-44809086	K562	blood:	n/a	n/a
10	ATF3	chr5:44809365-44809713	K562	blood:	n/a	n/a
11	BACH1	chr5:44807560-44807730	K562	blood:	n/a	n/a
12	BACH1	chr5:44812721-44812997	K562	blood:	n/a	n/a
13	BCLAF1	chr5:44808520-44809248	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:44808566-44810152	K562	blood:	n/a	n/a
15	BHLHE40	chr5:44808837-44809612	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:44808613-44810001	GM12878	blood:	n/a	n/a
17	BRCA1	chr5:44809441-44810447	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr5:44808997-44809228	HepG2	liver:	n/a	n/a
19	BRCA1	chr5:44808256-44809228	Hela-S3	cervix:	n/a	n/a
20	CBX3	chr5:44808620-44809310	K562	blood:	n/a	n/a
21	CBX3	chr5:44808641-44809341	HCT-116	colon:	n/a	n/a
22	CBX3	chr5:44808529-44809395	HCT-116	colon:	n/a	n/a
23	CBX3	chr5:44808635-44809235	K562	blood:	n/a	n/a
24	CCNT2	chr5:44819239-44819439	K562	blood:	n/a	n/a
25	CCNT2	chr5:44808711-44809742	K562	blood:	n/a	n/a
26	CCNT2	chr5:44814056-44814236	K562	blood:	n/a	n/a
27	CEBPB	chr5:44808659-44809388	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
28	CEBPB	chr5:44808558-44810095	Hela-S3	cervix:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
29	CEBPB	chr5:44808628-44809421	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
30	CEBPB	chr5:44808478-44809340	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
31	CEBPB	chr5:44808761-44809187	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
32	CEBPB	chr5:44808691-44809335	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
33	CEBPB	chr5:44810956-44811416	K562	blood:	n/a	chr5:44810972-44810984
34	CEBPB	chr5:44808501-44809447	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
35	CEBPB	chr5:44806972-44807745	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr5:44808714-44809296	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
37	CEBPB	chr5:44808722-44809277	H1-hESC	embryonic stem cell:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
38	CEBPB	chr5:44808729-44809218	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
39	CEBPB	chr5:44808730-44809291	IMR90	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
40	CEBPB	chr5:44808768-44809156	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
41	CEBPB	chr5:44808540-44809474	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
42	CEBPB	chr5:44809633-44809978	K562	blood:	n/a	n/a
43	CEBPB	chr5:44808628-44809266	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
44	CEBPB	chr5:44808703-44809264	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
45	CEBPB	chr5:44808676-44809322	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
46	CEBPB	chr5:44808594-44809293	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
47	CEBPB	chr5:44808690-44809216	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
48	CEBPB	chr5:44811150-44811434	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr5:44808729-44809224	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
50	CEBPD	chr5:44808814-44809207	HepG2	liver:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:44809054-44809104	NH-A	brain:	n/a
2	chr5:44807541-44807591	Hepatocyte	liver:	n/a
3	chr5:44808879-44808929	U87	brain:	n/a
4	chr5:44808838-44808888	Hepatocyte	liver:	n/a
5	chr5:44806923-44806973	T-47D	breast:	n/a
6	chr5:44809098-44809148	AG04450	lung:	fetal
7	chr5:44809054-44809104	Hela-S3	cervix:	n/a
8	chr5:44808792-44808842	Hela-S3	cervix:	n/a
9	chr5:44809829-44809879	AG09319	gingival:	n/a
10	chr5:44808838-44808888	HUVEC	blood vessel:	n/a
11	chr5:44809098-44809148	U87	brain:	n/a
12	chr5:44806923-44806973	HRPEpiC	eye:	n/a
13	chr5:44809829-44809879	AG04449	skin:	fetal
14	chr5:44808944-44808994	HNPCEpiC	eye:	n/a
15	chr5:44808944-44808994	PANC-1	pancreas:	n/a
16	chr5:44808879-44808929	Hela-S3	cervix:	n/a
17	chr5:44808944-44808994	AG09319	gingival:	n/a
18	chr5:44808879-44808929	SK-N-SH_RA	brain:	n/a
19	chr5:44808985-44809035	RPTEC	kidney:	n/a
20	chr5:44808944-44808994	SK-N-SH_RA	brain:	n/a
21	chr5:44809616-44809666	HCPEpiC	choroid plexus:	n/a
22	chr5:44809829-44809879	MCF-7	breast:	n/a
23	chr5:44808879-44808929	SK-N-MC	brain:	n/a
24	chr5:44808838-44808888	HCF	heart:	n/a
25	chr5:44808992-44809042	GM12891	blood:	n/a
26	chr5:44809098-44809148	HUVEC	blood vessel:	n/a
27	chr5:44809978-44810028	Caco-2	colon:	n/a
28	chr5:44808985-44809035	AG04450	lung:	fetal
29	chr5:44809978-44810028	PrEC	prostate:	n/a
30	chr5:44808992-44809042	ECC-1	luminal epithelium:	n/a
31	chr5:44809616-44809666	U87	brain:	n/a
32	chr5:44809789-44809839	T-47D	breast:	n/a
33	chr5:44809616-44809666	HL-60	blood:	n/a
34	chr5:44808985-44809035	IMR90	lung:	fetal
35	chr5:44809616-44809666	SK-N-SH	brain:	n/a
36	chr5:44809789-44809839	HCT-116	colon:	n/a
37	chr5:44809978-44810028	NH-A	brain:	n/a
38	chr5:44809829-44809879	SKMC	muscle:	n/a
39	chr5:44809098-44809148	MCF10A-Er-Src	breast:	n/a
40	chr5:44809616-44809666	SK-N-SH_RA	brain:	n/a
41	chr5:44806923-44806973	AG04449	skin:	fetal
42	chr5:44809829-44809879	SAEC	small airway:	n/a
43	chr5:44808838-44808888	SAEC	small airway:	n/a
44	chr5:44808792-44808842	HCPEpiC	choroid plexus:	n/a
45	chr5:44808944-44808994	GM06990	blood:	n/a
46	chr5:44808879-44808929	GM12891	blood:	n/a
47	chr5:44807541-44807591	NB4	blood:	n/a
48	chr5:44809616-44809666	GM12891	blood:	n/a
49	chr5:44808792-44808842	SAEC	small airway:	n/a
50	chr5:44809978-44810028	HUVEC	blood vessel:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
2	chr5:44808999..44809744-chr7:72971733..72972413,2	Hela-S3	cervix:
3	chr20:61557361..61558053-chr5:44808686..44809479,2	Hela-S3	cervix:
4	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
5	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:
6	chr5:44803599..44805422-chr5:44807607..44810623,4	MCF-7	breast:
7	chr1:77684507..77685215-chr5:44808668..44809523,2	Hela-S3	cervix:
8	chr5:44821717..44824511-chr5:44825492..44828126,3	K562	blood:
9	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:
10	chr19:14529681..14530530-chr5:44809016..44809604,2	Hela-S3	cervix:
11	chr2:191745250..191746774-chr5:44808743..44810659,2	MCF-7	breast:
12	chr16:2317728..2318295-chr5:44808823..44809613,2	Hela-S3	cervix:
13	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
14	chr5:44808556..44810835-chr5:44829625..44832716,3	K562	blood:
15	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
16	chr4:83821443..83822373-chr5:44808683..44809463,2	Hela-S3	cervix:
17	chr17:73775676..73776311-chr5:44809199..44809853,2	Hela-S3	cervix:
18	chr15:93425618..93426327-chr5:44808930..44809610,2	Hela-S3	cervix:
19	chr3:132440899..132441670-chr5:44809571..44810212,2	Hela-S3	cervix:
20	chr5:44808698..44809442-chr6:36410427..36411129,2	Hela-S3	cervix:
21	chr4:40058800..40059461-chr5:44808324..44809273,2	Hela-S3	cervix:
22	chr5:44812314..44818024-chr5:44831286..44835501,6	K562	blood:
23	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:
24	chr5:44808786..44809598-chr5:172197780..172198613,2	Hela-S3	cervix:
25	chr5:44808723..44809249-chr7:100026295..100026950,2	Hela-S3	cervix:
26	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
27	chr10:71929901..71930548-chr5:44808772..44809281,2	Hela-S3	cervix:
28	chr11:17099102..17099608-chr5:44808888..44809410,2	Hela-S3	cervix:
29	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
30	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
31	chr10:102821336..102821906-chr5:44808729..44809463,2	Hela-S3	cervix:
32	chr2:171785493..171786293-chr5:44809583..44810173,2	Hela-S3	cervix:
33	chr17:7591709..7592384-chr5:44809087..44809902,2	Hela-S3	cervix:
34	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
35	chr5:44800337..44802609-chr5:44815368..44818346,2	K562	blood:
36	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
37	chr14:23938468..23939352-chr5:44808810..44809313,2	Hela-S3	cervix:
38	chr12:49392278..49393242-chr5:44808988..44809561,2	Hela-S3	cervix:
39	chr5:44808765..44814014-chr5:44819023..44823010,7	MCF-7	breast:
40	chr5:44808957..44809562-chr9:124132087..124132930,2	Hela-S3	cervix:
41	chr3:196044330..196045109-chr5:44808668..44809542,2	Hela-S3	cervix:
42	chr5:44817948..44820754-chr5:44857369..44859717,2	K562	blood:
43	chr1:53793010..53793667-chr5:44808690..44809499,2	Hela-S3	cervix:
44	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF10-3	chr5:44813019-44813187	l_2917_chr5:44777367-44844699_brain
2	lnc-FGF10-3	chr5:44808744-44808895	NR_109862
3	lnc-MRPS30-8	chr5:44826178-44828694	ENSG00000272335.1
4	lnc-FGF10-3	chr5:44808744-44808881	NONHSAT147331
5	lnc-FGF10-3	chr5:44812180-44813015	l_2917_chr5:44777367-44844699_brain
6	lnc-FGF10-3	chr5:44808744-44808843	ENSG00000251141.1
7	lnc-FGF10-3	chr5:44808744-44808895	NR_109865
8	lnc-FGF10-3	chr5:44808744-44808895	NR_109864
9	lnc-MRPS30-7	chr5:44815321-44815665	NONHSAT101352
10	lnc-FGF10-3	chr5:44813768-44813851	l_2917_chr5:44777367-44844699_brain
11	lnc-MRPS30-7	chr5:44816545-44820530	NONHSAT101352
12	lnc-FGF10-3	chr5:44808744-44808828	ENSG00000251141.1
13	lnc-FGF10-3	chr5:44808744-44808879	ENSG00000251141.1
14	lnc-FGF10-3	chr5:44808744-44808895	NR_109863
15	lnc-FGF10-3	chr5:44808744-44808861	ENSG00000251141.1
16	lnc-FGF10-3	chr5:44808744-44808768	ENSG00000251141.1
17	lnc-FGF10-3	chr5:44808744-44808844	ENSG00000251141.1
18	lnc-FGF10-3	chr5:44808744-44808838	ENSG00000251141.1
19	lnc-MRPS30-8	chr5:44826678-44828418	NONHSAT101354
20	lnc-MRPS30-8	chr5:44832987-44833074	NONHSAT101354
21	lnc-FGF10-3	chr5:44808744-44808861	ENSG00000251141.1
22	lnc-MRPS30-8	chr5:44830990-44831818	NONHSAT101354

No data

Variant related genes	Relation type
MRPS30	TF binding region
ENSG00000272335	TF binding region
ENSG00000251141	TF binding region
MRPS30	CpG island
ENSG00000272335	CpG island
ENSG00000251141	CpG island
ENSG00000113971	chromatin interactions
ENSG00000101191	chromatin interactions
ENSG00000138674	chromatin interactions
ENSG00000112996	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000112078	chromatin interactions
ENSG00000157193	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000251141	chromatin interactions
ENSG00000142892	chromatin interactions
ENSG00000205794	chromatin interactions
ENSG00000168152	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000260778	chromatin interactions
ENSG00000251022	chromatin interactions
ENSG00000115806	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000181418	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000179165	chromatin interactions
ENSG00000272888	chromatin interactions
ENSG00000272335	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000205937	chromatin interactions
ENSG00000129460	chromatin interactions
ENSG00000207715	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000248092	chromatin interactions
ENSG00000079332	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000248724	chromatin interactions
ENSG00000141499	chromatin interactions
ENSG00000115419	chromatin interactions

Extended variants
information (count: 1136 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1136 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13183209	chr5:44803749-44803750	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537503741	chr5:44803757-44803758	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs554650839	chr5:44803772-44803773	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs574906415	chr5:44803773-44803774	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs142478816	chr5:44803777-44803778	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs6872254	chr5:44803784-44803785	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs577609379	chr5:44803877-44803878	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182420109	chr5:44803889-44803890	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369830681	chr5:44803890-44803891	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs562833750	chr5:44803914-44803915	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576510260	chr5:44803925-44803926	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559077140	chr5:44803930-44803931	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs541932395	chr5:44803959-44803960	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573577130	chr5:44804013-44804014	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146571966	chr5:44804014-44804015	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527814555	chr5:44804040-44804041	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs969679	chr5:44804052-44804053	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs56752499	chr5:44804098-44804099	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs397997638	chr5:44804103-44804104	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs559959907	chr5:44804166-44804167	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs532261722	chr5:44804192-44804193	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs552062069	chr5:44804225-44804226	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532907283	chr5:44804237-44804238	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568467109	chr5:44804260-44804261	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187649131	chr5:44804315-44804316	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148312310	chr5:44804352-44804353	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs376440058	chr5:44804373-44804374	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568127134	chr5:44804385-44804386	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs533697984	chr5:44804472-44804473	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192613539	chr5:44804489-44804490	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs530652500	chr5:44804490-44804491	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs7737591	chr5:44804506-44804507	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7717459	chr5:44804525-44804526	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs576325623	chr5:44804540-44804541	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs184779647	chr5:44804569-44804570	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs34918593	chr5:44804571-44804572	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs189683987	chr5:44804584-44804585	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372573828	chr5:44804663-44804664	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs192253898	chr5:44804690-44804691	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs541165269	chr5:44804700-44804701	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs184315606	chr5:44804716-44804717	Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs200576818	chr5:44804783-44804784	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs144402691	chr5:44804784-44804785	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs386403718	chr5:44804787-44804788	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs57935828	chr5:44804791-44804792	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs10064562	chr5:44804813-44804814	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs545396896	chr5:44804821-44804822	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571571469	chr5:44804833-44804834	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs545664060	chr5:44804871-44804872	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562456330	chr5:44804886-44804887	Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
2	chr5:44799200-44806800	Weak transcription	Dnd41	blood
3	chr5:44802200-44805400	Genic enhancers	Hela-S3	cervix
4	chr5:44802200-44807800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:44805400-44806400	Enhancers	Fetal Lung	lung
6	chr5:44805400-44807400	Flanking Active TSS	Hela-S3	cervix
7	chr5:44806200-44807200	Enhancers	K562	blood
8	chr5:44806400-44806600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:44806400-44807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:44806400-44807200	Enhancers	Brain Anterior Caudate	brain
11	chr5:44806400-44807200	Weak transcription	Fetal Lung	lung
12	chr5:44806400-44809000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:44806600-44808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:44806800-44807200	Enhancers	Dnd41	blood
15	chr5:44806800-44807400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:44806800-44807400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:44806800-44807600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:44806800-44807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:44806800-44808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:44806800-44808200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:44806800-44808600	Enhancers	NHEK	skin
22	chr5:44807000-44807200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:44807000-44807400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:44807000-44807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:44807000-44807800	Enhancers	HMEC	breast
26	chr5:44807000-44808200	Enhancers	GM12878-XiMat	blood
27	chr5:44807200-44807400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:44807200-44807600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:44807200-44807600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:44807200-44807600	Flanking Active TSS	Dnd41	blood
31	chr5:44807200-44807800	Flanking Active TSS	K562	blood
32	chr5:44807200-44808000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:44807200-44808200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:44807200-44808200	Enhancers	Fetal Lung	lung
35	chr5:44807200-44810600	Active TSS	Brain Anterior Caudate	brain
36	chr5:44807200-44811000	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr5:44807400-44807600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr5:44807400-44807600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr5:44807400-44807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:44807400-44807600	Enhancers	Colon Smooth Muscle	Colon
41	chr5:44807400-44807600	Enhancers	Fetal Intestine Large	intestine
42	chr5:44807400-44807600	Enhancers	Rectal Smooth Muscle	rectum
43	chr5:44807400-44807600	Active TSS	Hela-S3	cervix
44	chr5:44807400-44808000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:44807400-44808400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr5:44807400-44810200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:44807600-44807800	Flanking Active TSS	Hela-S3	cervix
48	chr5:44807600-44808000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:44807600-44808000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:44807600-44808200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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