Variant report

Variant	esv3372157
Chromosome Location	chr11:67769401-67772749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:573)
CpG islands
(count:490)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:573 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67769722-67769736	HepG2	liver:	n/a	n/a
2	ATF2	chr11:67771439-67771886	GM12878	blood:	n/a	n/a
3	ATF3	chr11:67771495-67771797	K562	blood:	n/a	chr11:67771598-67771607
4	ATF3	chr11:67771505-67771926	A549	lung:	n/a	chr11:67771598-67771607
5	BACH1	chr11:67771542-67771872	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr11:67770938-67771181	GM12878	blood:	n/a	chr11:67770982-67770991 chr11:67770983-67770996 chr11:67771018-67771027 chr11:67771028-67771037
7	BCLAF1	chr11:67770818-67771249	GM12878	blood:	n/a	chr11:67770982-67770991 chr11:67770983-67770996 chr11:67771018-67771027 chr11:67771028-67771037
8	BCLAF1	chr11:67771345-67771879	GM12878	blood:	n/a	chr11:67771597-67771606
9	BHLHE40	chr11:67769512-67769893	HepG2	liver:	n/a	n/a
10	BHLHE40	chr11:67769551-67769812	K562	blood:	n/a	n/a
11	BHLHE40	chr11:67771468-67771833	HepG2	liver:	n/a	n/a
12	BHLHE40	chr11:67770874-67771243	GM12878	blood:	n/a	chr11:67770996-67771012
13	BHLHE40	chr11:67771479-67771917	K562	blood:	n/a	n/a
14	BHLHE40	chr11:67769596-67769806	HepG2	liver:	n/a	n/a
15	BHLHE40	chr11:67769526-67770501	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:67771019-67771237	K562	blood:	n/a	n/a
17	BHLHE40	chr11:67771448-67771870	GM12878	blood:	n/a	n/a
18	BRCA1	chr11:67771546-67771824	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr11:67770167-67770264	GM12878	blood:	n/a	n/a
20	CBX3	chr11:67771431-67771960	K562	blood:	n/a	n/a
21	CCNT2	chr11:67770775-67771179	K562	blood:	n/a	chr11:67770977-67770986 chr11:67770971-67770980
22	CCNT2	chr11:67771388-67771832	K562	blood:	n/a	n/a
23	CEBPB	chr11:67771556-67771766	Hela-S3	cervix:	n/a	n/a
24	CHD1	chr11:67770034-67770196	GM12878	blood:	n/a	n/a
25	CHD1	chr11:67771380-67771877	GM12878	blood:	n/a	n/a
26	CHD1	chr11:67770929-67770946	GM12878	blood:	n/a	n/a
27	CHD2	chr11:67771005-67771072	GM12878	blood:	n/a	chr11:67771041-67771051
28	CHD2	chr11:67771405-67771775	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr11:67771530-67771870	GM12878	blood:	n/a	n/a
30	CREB1	chr11:67771321-67771955	A549	lung:	n/a	n/a
31	CREB1	chr11:67769929-67771920	GM12878	blood:	n/a	n/a
32	CREB1	chr11:67771361-67772027	HepG2	liver:	n/a	n/a
33	CREB1	chr11:67771497-67771705	A549	lung:	n/a	n/a
34	CTCF	chr11:67770740-67770890	GM12865	blood:	n/a	n/a
35	CTCF	chr11:67771553-67771674	Spleen_OC	spleen:	n/a	chr11:67771627-67771640
36	CTCF	chr11:67770720-67770870	GM12874	blood:	n/a	n/a
37	CTCF	chr11:67770480-67770630	GM12873	blood:	n/a	n/a
38	CTCF	chr11:67770740-67770890	GM12874	blood:	n/a	n/a
39	CTCF	chr11:67770590-67770599	NHEK	skin:	n/a	n/a
40	CTCF	chr11:67770653-67770855	GM12892	blood:	n/a	n/a
41	CTCF	chr11:67770620-67770770	GM12864	blood:	n/a	n/a
42	CTCF	chr11:67770700-67770850	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr11:67770694-67770817	GM19240	blood:	n/a	n/a
44	CTCF	chr11:67770700-67770850	GM12868	blood:	n/a	n/a
45	CTCF	chr11:67770730-67770822	GM12878	blood:	n/a	n/a
46	CTCF	chr11:67770788-67770795	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:67770680-67770830	GM12872	blood:	n/a	n/a
48	CTCF	chr11:67770760-67770779	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:67770620-67770770	GM12875	blood:	n/a	n/a
50	CTCF	chr11:67770660-67770810	GM12878	blood:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67772273-67772323	SK-N-MC	brain:	n/a
2	chr11:67772000-67772050	AG04449	skin:	fetal
3	chr11:67772273-67772323	SK-N-MC	brain:	n/a
4	chr11:67772000-67772050	AG04449	skin:	fetal
5	chr11:67772000-67772050	IMR90	lung:	fetal
6	chr11:67772273-67772323	HNPCEpiC	eye:	n/a
7	chr11:67770404-67770454	HCPEpiC	choroid plexus:	n/a
8	chr11:67772000-67772050	HUVEC	blood vessel:	n/a
9	chr11:67770665-67770715	AG04449	skin:	fetal
10	chr11:67770665-67770715	SK-N-MC	brain:	n/a
11	chr11:67772273-67772323	PANC-1	pancreas:	n/a
12	chr11:67771726-67771776	SK-N-MC	brain:	n/a
13	chr11:67772273-67772323	H1-hESC	embryonic stem cell:	embryo
14	chr11:67771726-67771776	GM12878	blood:	n/a
15	chr11:67771726-67771776	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:67770929-67770979	NT2-D1	testis:	n/a
17	chr11:67771726-67771776	Caco-2	colon:	n/a
18	chr11:67771726-67771776	LNCaP	prostate:	n/a
19	chr11:67771606-67771656	Hepatocyte	liver:	n/a
20	chr11:67771791-67771841	PANC-1	pancreas:	n/a
21	chr11:67770404-67770454	BE2_C	brain:	n/a
22	chr11:67770665-67770715	GM06990	blood:	n/a
23	chr11:67771791-67771841	SK-N-MC	brain:	n/a
24	chr11:67771726-67771776	SAEC	small airway:	n/a
25	chr11:67771726-67771776	HCT-116	colon:	n/a
26	chr11:67771726-67771776	MCF-7	breast:	n/a
27	chr11:67770929-67770979	NB4	blood:	n/a
28	chr11:67771726-67771776	NB4	blood:	n/a
29	chr11:67772000-67772050	HAEpiC	amniotic membrane:	n/a
30	chr11:67772273-67772323	NHDF-neo	bronchial:	n/a
31	chr11:67770929-67770979	HCT-116	colon:	n/a
32	chr11:67771726-67771776	U87	brain:	n/a
33	chr11:67771791-67771841	NHBE	bronchial:	n/a
34	chr11:67770404-67770454	HUVEC	blood vessel:	n/a
35	chr11:67772273-67772323	HMEC	breast:	n/a
36	chr11:67770929-67770979	Jurkat	blood:	n/a
37	chr11:67771606-67771656	T-47D	breast:	n/a
38	chr11:67770665-67770715	HEEpiC	esophagus:	n/a
39	chr11:67771726-67771776	K562	blood:	n/a
40	chr11:67770929-67770979	SK-N-MC	brain:	n/a
41	chr11:67770404-67770454	HMEC	breast:	n/a
42	chr11:67771726-67771776	H1-hESC	embryonic stem cell:	embryo
43	chr11:67771606-67771656	HCM	heart:	n/a
44	chr11:67772000-67772050	AG04450	lung:	fetal
45	chr11:67771606-67771656	MCF10A-Er-Src	breast:	n/a
46	chr11:67771791-67771841	GM06990	blood:	n/a
47	chr11:67770404-67770454	ProgFib	skin:	n/a
48	chr11:67771726-67771776	Jurkat	blood:	n/a
49	chr11:67772000-67772050	HL-60	blood:	n/a
50	chr11:67772000-67772050	HEK293	kidney:	embryo

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67767693..67769603-chr11:67779964..67781851,2	K562	blood:
2	chr11:67770998..67775364-chr11:67887455..67891345,5	MCF-7	breast:
3	chr11:67772162..67773973-chr11:67887199..67889790,2	K562	blood:
4	chr11:67770133..67772267-chr11:67796388..67798189,2	K562	blood:
5	chr11:67762605..67767485-chr11:67767779..67773135,10	K562	blood:
6	chr11:67771335..67773099-chr11:67888319..67890316,2	MCF-7	breast:
7	chr11:67771190..67771966-chr19:47291348..47292062,2	HCT-116	colon:
8	chr11:67770463..67774040-chr11:67774088..67778740,6	K562	blood:
9	chr11:67770129..67772999-chr11:67979313..67982279,4	K562	blood:
10	chr1:11969474..11970311-chr11:67771036..67771591,2	HCT-116	colon:
11	chr11:67770338..67773597-chr11:67780108..67784129,5	K562	blood:
12	chr11:67770966..67773282-chr11:67774269..67777181,2	K562	blood:
13	chr11:67770112..67773137-chr11:67777240..67779852,3	K562	blood:
14	chr11:67770218..67773172-chr11:67805064..67808057,3	K562	blood:
15	chr11:67769721..67772110-chr11:67979489..67981755,3	MCF-7	breast:
16	chr11:67763621..67766711-chr11:67769461..67772575,7	MCF-7	breast:

No data

Variant related genes	Relation type
ALDH3B1	TF binding region
UNC93B1	TF binding region
ALDH3B1	CpG island
UNC93B1	CpG island
ENSG00000110057	chromatin interactions
ENSG00000006534	chromatin interactions
ENSG00000255306	chromatin interactions
ENSG00000110717	chromatin interactions
ENSG00000255236	chromatin interactions
ENSG00000110721	chromatin interactions
ENSG00000201801	chromatin interactions
ENSG00000110066	chromatin interactions
ENSG00000110719	chromatin interactions
ENSG00000105281	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577403375	chr11:67769422-67769423	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs544681457	chr11:67769431-67769432	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs568762212	chr11:67769450-67769451	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs183843492	chr11:67769471-67769472	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370412566	chr11:67769481-67769482	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186670150	chr11:67769483-67769484	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs561482575	chr11:67769501-67769502	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs192319983	chr11:67769512-67769513	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111667472	chr11:67769516-67769517	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370135883	chr11:67769594-67769595	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149239786	chr11:67769604-67769605	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs78800356	chr11:67769609-67769610	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185859179	chr11:67769648-67769649	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs368843797	chr11:67769655-67769656	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113338565	chr11:67769656-67769657	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs147636981	chr11:67769663-67769664	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs60629377	chr11:67769691-67769692	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538070834	chr11:67769697-67769698	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs564372558	chr11:67769707-67769708	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531810094	chr11:67769760-67769761	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs561460707	chr11:67769838-67769839	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs190326659	chr11:67769852-67769853	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs568620034	chr11:67769885-67769886	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs113123487	chr11:67769886-67769887	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561341439	chr11:67769892-67769893	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs529648478	chr11:67769988-67769989	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs548218420	chr11:67770009-67770010	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs57333975	chr11:67770025-67770026	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs139192871	chr11:67770075-67770076	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs113375742	chr11:67770164-67770165	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs144411182	chr11:67770212-67770213	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs538039220	chr11:67770249-67770250	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs3751085	chr11:67770384-67770385	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs574915610	chr11:67770388-67770389	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs71459682	chr11:67770397-67770398	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs541854589	chr11:67770398-67770399	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs201729211	chr11:67770481-67770482	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs146593182	chr11:67770499-67770500	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs546440995	chr11:67770506-67770507	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs571116415	chr11:67770599-67770600	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs182093266	chr11:67770651-67770652	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs369746477	chr11:67770656-67770657	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs373531094	chr11:67770694-67770695	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs576191117	chr11:67770705-67770706	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs543650166	chr11:67770718-67770719	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs562243543	chr11:67770739-67770740	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs377202662	chr11:67770780-67770781	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs371817301	chr11:67770792-67770793	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs529827407	chr11:67770836-67770837	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs547863427	chr11:67770848-67770849	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD

Chromatin state (count:598 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67759200-67770400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:67759200-67770400	Weak transcription	Right Atrium	heart
3	chr11:67761400-67769800	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr11:67762000-67770400	Weak transcription	NHLF	lung
5	chr11:67763600-67769800	Genic enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:67763800-67770400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:67764200-67770000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:67764400-67770600	Weak transcription	Small Intestine	intestine
9	chr11:67764600-67769600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:67764600-67770000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:67764600-67770000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:67764600-67770000	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:67764600-67770600	Weak transcription	Right Ventricle	heart
14	chr11:67764800-67769800	Weak transcription	Adipose Nuclei	Adipose
15	chr11:67764800-67770200	Weak transcription	Esophagus	oesophagus
16	chr11:67764800-67770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:67765000-67770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:67765000-67770000	Weak transcription	Stomach Mucosa	stomach
19	chr11:67765000-67770200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:67765000-67770400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:67765000-67770400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:67765000-67770800	Weak transcription	K562	blood
23	chr11:67765200-67769600	Weak transcription	Fetal Intestine Large	intestine
24	chr11:67765200-67769800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr11:67765200-67770000	Weak transcription	Placenta	Placenta
26	chr11:67765200-67770000	Weak transcription	Pancreas	Pancrea
27	chr11:67765200-67770400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:67765400-67769600	Weak transcription	Gastric	stomach
29	chr11:67765400-67769800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:67765400-67769800	Weak transcription	Hela-S3	cervix
31	chr11:67765400-67770000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:67765400-67770000	Weak transcription	Colonic Mucosa	Colon
33	chr11:67765400-67770200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:67765600-67770200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:67765600-67770400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:67765800-67770000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:67766000-67770000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:67766000-67770600	Weak transcription	Primary T cells from cord blood	blood
39	chr11:67766200-67769600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr11:67766200-67769800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:67766200-67769800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:67766200-67770000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:67766200-67770400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr11:67766200-67771400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:67766400-67770000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:67766400-67770800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:67766400-67770800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr11:67766600-67769800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:67766600-67769800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:67766600-67770000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

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