Variant report

Variant	esv3341107
Chromosome Location	chr7:150949269-150951767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:122)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:150950129-150950315	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD2	chr7:150950091-150950413	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr7:150948694-150950541	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:150949140-150949290	HBMEC	blood vessel:	n/a	n/a
5	CTCF	chr7:150951372-150951392	Kidney_OC	kidney:	n/a	n/a
6	EP300	chr7:150948660-150949284	SK-N-SH_RA	brain:	n/a	chr7:150949098-150949114 chr7:150949111-150949127
7	EP300	chr7:150948319-150949662	SK-N-SH	brain:	n/a	chr7:150949098-150949114 chr7:150949111-150949127
8	HMGN3	chr7:150948725-150949311	K562	blood:	n/a	n/a
9	JUND	chr7:150948616-150949332	A549	lung:	n/a	n/a
10	MAX	chr7:150948277-150949683	SK-N-SH	brain:	n/a	n/a
11	MAX	chr7:150948293-150949284	A549	lung:	n/a	n/a
12	MAX	chr7:150948159-150949443	A549	lung:	n/a	n/a
13	MAX	chr7:150948295-150949659	SK-N-SH	brain:	n/a	n/a
14	MAZ	chr7:150948322-150950503	IMR90	lung:	n/a	n/a
15	MAZ	chr7:150948676-150949320	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr7:150948674-150949282	K562	blood:	n/a	n/a
17	MAZ	chr7:150948823-150949291	HepG2	liver:	n/a	n/a
18	MXI1	chr7:150950196-150950279	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR2F2	chr7:150948655-150949424	MCF-7	breast:	n/a	n/a
20	NRF1	chr7:150948267-150949770	SK-N-SH	brain:	n/a	chr7:150949056-150949067 chr7:150949056-150949070
21	POLR2A	chr7:150950444-150950473	Gliobla	brain:	n/a	n/a
22	POLR2A	chr7:150948730-150949343	HEK293	kidney:	n/a	n/a
23	POLR2A	chr7:150948680-150949406	Gliobla	brain:	n/a	n/a
24	POLR2A	chr7:150948612-150949352	HCT-116	colon:	n/a	n/a
25	POLR2A	chr7:150948653-150949596	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr7:150948348-150949594	HCT-116	colon:	n/a	n/a
27	POLR2A	chr7:150948688-150949293	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr7:150949765-150949844	ProgFib	skin:	n/a	n/a
29	POLR2A	chr7:150948663-150949322	A549	lung:	n/a	n/a
30	POLR2A	chr7:150948319-150949824	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr7:150948671-150949501	ProgFib	skin:	n/a	n/a
32	POLR2A	chr7:150948611-150949293	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr7:150949756-150949762	ProgFib	skin:	n/a	n/a
34	POLR2A	chr7:150949011-150949322	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr7:150948484-150950723	H1-neurons	neurons:	n/a	n/a
36	POLR2A	chr7:150948664-150949610	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr7:150949015-150949723	U87	brain:	n/a	n/a
38	POLR2A	chr7:150949021-150949723	U87	brain:	n/a	n/a
39	POLR2A	chr7:150948569-150949381	HCT-116	colon:	n/a	n/a
40	POLR2A	chr7:150948699-150949664	IMR90	lung:	n/a	n/a
41	POLR2A	chr7:150948863-150949616	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr7:150948570-150949511	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr7:150948643-150949760	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr7:150948815-150949324	A549	lung:	n/a	n/a
45	POLR2A	chr7:150949518-150949692	ProgFib	skin:	n/a	n/a
46	POLR2A	chr7:150948730-150949635	U87	brain:	n/a	n/a
47	POLR2A	chr7:150948681-150950054	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr7:150948769-150949288	A549	lung:	n/a	n/a
49	REST	chr7:150948097-150950685	H1-neurons	neurons:	n/a	chr7:150948895-150948905 chr7:150950263-150950276 chr7:150949138-150949151
50	REST	chr7:150948731-150949344	SK-N-SH	brain:	n/a	chr7:150948895-150948905 chr7:150949138-150949151

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150949495-150949545	HAEpiC	amniotic membrane:	n/a
2	chr7:150951482-150951532	AG09309	skin:	n/a
3	chr7:150949495-150949545	HepG2	liver:	n/a
4	chr7:150949495-150949545	H1-hESC	embryonic stem cell:	embryo
5	chr7:150949495-150949545	PrEC	prostate:	n/a
6	chr7:150951482-150951532	HEK293	kidney:	embryo
7	chr7:150951482-150951532	LNCaP	prostate:	n/a
8	chr7:150951482-150951532	HCF	heart:	n/a
9	chr7:150951482-150951532	K562	blood:	n/a
10	chr7:150949495-150949545	AG10803	skin:	n/a
11	chr7:150949495-150949545	HCM	heart:	n/a
12	chr7:150951482-150951532	HRCEpiC	kidney:	n/a
13	chr7:150949495-150949545	K562	blood:	n/a
14	chr7:150951482-150951532	SK-N-SH_RA	brain:	n/a
15	chr7:150951482-150951532	HNPCEpiC	eye:	n/a
16	chr7:150949495-150949545	T-47D	breast:	n/a
17	chr7:150951482-150951532	SK-N-SH	brain:	n/a
18	chr7:150949495-150949545	CMK	blood:	n/a
19	chr7:150951482-150951532	GM12892	blood:	n/a
20	chr7:150949495-150949545	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:150949495-150949545	MCF10A-Er-Src	breast:	n/a
22	chr7:150949495-150949545	NT2-D1	testis:	n/a
23	chr7:150949495-150949545	BE2_C	brain:	n/a
24	chr7:150949495-150949545	Hela-S3	cervix:	n/a
25	chr7:150951482-150951532	HMEC	breast:	n/a
26	chr7:150949495-150949545	NHBE	bronchial:	n/a
27	chr7:150949495-150949545	U87	brain:	n/a
28	chr7:150951482-150951532	ECC-1	luminal epithelium:	n/a
29	chr7:150949495-150949545	MCF-7	breast:	n/a
30	chr7:150951482-150951532	HCT-116	colon:	n/a
31	chr7:150949495-150949545	HEEpiC	esophagus:	n/a
32	chr7:150951482-150951532	NHDF-neo	bronchial:	n/a
33	chr7:150951482-150951532	AG04449	skin:	fetal
34	chr7:150949495-150949545	SK-N-SH_RA	brain:	n/a
35	chr7:150949495-150949545	Jurkat	blood:	n/a
36	chr7:150951482-150951532	AoSMC	blood vessel:	n/a
37	chr7:150949495-150949545	NHDF-neo	bronchial:	n/a
38	chr7:150949495-150949545	ProgFib	skin:	n/a
39	chr7:150951482-150951532	HIPEpiC	eye:	n/a
40	chr7:150949495-150949545	Hepatocyte	liver:	n/a
41	chr7:150951482-150951532	Caco-2	colon:	n/a
42	chr7:150949495-150949545	GM06990	blood:	n/a
43	chr7:150951482-150951532	PFSK-1	brain:	n/a
44	chr7:150951482-150951532	ovcar-3	ovarian:	n/a
45	chr7:150949495-150949545	LNCaP	prostate:	n/a
46	chr7:150951482-150951532	T-47D	breast:	n/a
47	chr7:150949495-150949545	PFSK-1	brain:	n/a
48	chr7:150949495-150949545	ovcar-3	ovarian:	n/a
49	chr7:150951482-150951532	PANC-1	pancreas:	n/a
50	chr7:150951482-150951532	BE2_C	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150863343..150865061-chr7:150947610..150949922,2	MCF-7	breast:
2	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:
3	chr7:150705057..150707030-chr7:150948019..150950739,2	K562	blood:
4	chr7:150948685..150949333-chr7:151000281..151001196,2	MCF-7	breast:
5	chr7:150948703..150950863-chr7:150952432..150955323,2	K562	blood:
6	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:
7	chr7:150949363..150951350-chr7:150953823..150956264,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHPF2-1	chr7:150951399-150951476	ENSG00000243018.1

No data

Variant related genes	Relation type
SMARCD3	TF binding region
SMARCD3	CpG island
ENSG00000082014	chromatin interactions
ENSG00000164900	chromatin interactions
ENSG00000164867	chromatin interactions
ENSG00000033100	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142607695	chr7:150949398-150949399	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs75628373	chr7:150949407-150949408	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs73169674	chr7:150949408-150949409	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs544394645	chr7:150949506-150949507	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs561194702	chr7:150949524-150949525	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs139159274	chr7:150949526-150949527	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs373949127	chr7:150949527-150949528	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs374582912	chr7:150949528-150949529	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs369680913	chr7:150949530-150949531	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs35914888	chr7:150949541-150949542	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs534531457	chr7:150949557-150949558	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs548327032	chr7:150949571-150949572	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs140580459	chr7:150949585-150949586	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs377256929	chr7:150949609-150949610	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs565561344	chr7:150949645-150949646	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs116297345	chr7:150949674-150949675	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs570241391	chr7:150949720-150949721	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs536090795	chr7:150949813-150949814	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs201350174	chr7:150949818-150949819	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs113526039	chr7:150949819-150949820	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs113083632	chr7:150949820-150949821	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs397827658	chr7:150949821-150949822	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs185437460	chr7:150949847-150949848	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs190156078	chr7:150949942-150949943	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs535013221	chr7:150949945-150949946	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs558094363	chr7:150949963-150949964	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs577659347	chr7:150949998-150949999	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs144204977	chr7:150950017-150950018	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs367638143	chr7:150950088-150950089	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs147760030	chr7:150950124-150950125	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs78227127	chr7:150950140-150950141	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs141111962	chr7:150950149-150950150	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559285259	chr7:150950236-150950237	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs546911409	chr7:150950262-150950263	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs528347210	chr7:150950273-150950274	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs559649574	chr7:150950284-150950285	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs35546349	chr7:150950286-150950287	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs145178716	chr7:150950291-150950292	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs530550181	chr7:150950314-150950315	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs530232885	chr7:150950338-150950339	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs548674960	chr7:150950342-150950343	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs113987068	chr7:150950366-150950367	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs529838465	chr7:150950371-150950372	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113363419	chr7:150950393-150950394	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs566153763	chr7:150950402-150950403	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs535320883	chr7:150950408-150950409	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs182838295	chr7:150950432-150950433	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571290057	chr7:150950441-150950442	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs149201280	chr7:150950457-150950458	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs577791357	chr7:150950488-150950489	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150947000-150949400	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr7:150948400-150949400	Flanking Bivalent TSS/Enh	Dnd41	blood
3	chr7:150948400-150949600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:150948400-150949600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr7:150948400-150949600	Active TSS	NHLF	lung
6	chr7:150948400-150949800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:150948400-150949800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr7:150948400-150949800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:150948400-150950000	Active TSS	Aorta	Aorta
10	chr7:150948400-150950000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr7:150948600-150949400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr7:150948600-150949400	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:150948600-150949400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:150948600-150949400	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr7:150948600-150949400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:150948600-150949400	Active TSS	Brain Germinal Matrix	brain
17	chr7:150948600-150949400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr7:150948600-150949400	Active TSS	Fetal Stomach	stomach
19	chr7:150948600-150949400	Bivalent/Poised TSS	Thymus	Thymus
20	chr7:150948600-150949400	Active TSS	A549	lung
21	chr7:150948600-150949400	Active TSS	HSMM	muscle
22	chr7:150948600-150949400	Active TSS	HSMMtube	muscle
23	chr7:150948600-150949400	Active TSS	Osteobl	bone
24	chr7:150948600-150949600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:150948600-150949600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:150948600-150949600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
27	chr7:150948600-150949600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:150948600-150949600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:150948600-150949600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:150948600-150949600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr7:150948600-150949600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:150948600-150949600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:150948600-150949600	Active TSS	Brain Angular Gyrus	brain
34	chr7:150948600-150949600	Active TSS	Brain Anterior Caudate	brain
35	chr7:150948600-150949600	Active TSS	Brain Hippocampus Middle	brain
36	chr7:150948600-150949600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:150948600-150949600	Active TSS	Brain Substantia Nigra	brain
38	chr7:150948600-150949600	Active TSS	Colon Smooth Muscle	Colon
39	chr7:150948600-150949600	Active TSS	Fetal Lung	lung
40	chr7:150948600-150949600	Active TSS	Left Ventricle	heart
41	chr7:150948600-150949600	Active TSS	Psoas Muscle	Psoas
42	chr7:150948600-150949600	Active TSS	Right Ventricle	heart
43	chr7:150948600-150949600	Active TSS	NHDF-Ad	bronchial
44	chr7:150948600-150949800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:150948600-150949800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr7:150948600-150949800	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:150948600-150949800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
48	chr7:150948600-150949800	Active TSS	Gastric	stomach
49	chr7:150948600-150949800	Active TSS	Ovary	ovary
50	chr7:150948600-150949800	Active TSS	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links