Variant report

Variant	esv3420121
Chromosome Location	chr6:114662709-114664707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:489)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr6:114662411-114662844	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr6:114664491-114665091	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr6:114663394-114664060	H1-hESC	embryonic stem cell:	n/a	n/a
4	CCNT2	chr6:114663677-114663876	K562	blood:	n/a	n/a
5	CEBPD	chr6:114663784-114664113	HepG2	liver:	n/a	n/a
6	CHD1	chr6:114664492-114665073	H1-hESC	embryonic stem cell:	n/a	chr6:114664512-114664522
7	CHD2	chr6:114664643-114665180	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr6:114663992-114664044	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr6:114662281-114665659	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr6:114664677-114665002	IMR90	lung:	n/a	n/a
11	CTCF	chr6:114664660-114664810	HAc	cerebellar:	n/a	n/a
12	CTCF	chr6:114664680-114664830	GM12870	blood:	n/a	n/a
13	CTCF	chr6:114664601-114665057	MCF-7	breast:	n/a	n/a
14	CTCF	chr6:114664700-114664850	MCF-7	breast:	n/a	n/a
15	CTCF	chr6:114664700-114664850	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr6:114664420-114665279	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr6:114664680-114664830	RPTEC	kidney:	n/a	n/a
18	CTCF	chr6:114664653-114664965	MCF-7	breast:	n/a	n/a
19	CTCF	chr6:114664701-114664961	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr6:114664606-114665013	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr6:114664700-114664850	BE2_C	brain:	n/a	n/a
22	CTCF	chr6:114664597-114664966	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr6:114664650-114664942	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr6:114664560-114664710	GM12875	blood:	n/a	n/a
25	CTCF	chr6:114664704-114664970	MCF-7	breast:	n/a	n/a
26	CTCF	chr6:114664700-114664850	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr6:114664680-114664830	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr6:114662560-114662710	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr6:114664688-114664958	Medullo	brain:	n/a	n/a
30	CTCF	chr6:114662640-114662790	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr6:114664700-114664850	AoAF	blood vessel:	n/a	n/a
32	CTCF	chr6:114664700-114664850	HAc	cerebellar:	n/a	n/a
33	CTCF	chr6:114664667-114664960	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:114664680-114664830	A549	lung:	n/a	n/a
35	CTCF	chr6:114664507-114664522	MCF-7	breast:	n/a	n/a
36	CTCF	chr6:114664680-114664830	MCF-7	breast:	n/a	n/a
37	CTCF	chr6:114664680-114664830	GM12872	blood:	n/a	n/a
38	CTCF	chr6:114664020-114664170	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr6:114664040-114664190	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr6:114664320-114664367	MCF-7	breast:	n/a	n/a
41	CTCF	chr6:114664600-114664750	WI-38	lung:	n/a	n/a
42	CTCF	chr6:114662800-114662950	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr6:114664700-114664850	NHLF	lung:	n/a	n/a
44	CTCF	chr6:114664681-114664963	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:114664699-114664994	GM12878	blood:	n/a	n/a
46	CTCF	chr6:114664680-114664830	HFF	foreskin:	n/a	n/a
47	CTCF	chr6:114664699-114664960	Gliobla	brain:	n/a	n/a
48	CTCF	chr6:114664660-114664810	HCT-116	colon:	n/a	n/a
49	CTCF	chr6:114663527-114663549	MCF-7	breast:	n/a	n/a
50	CTCF	chr6:114664700-114664850	HCM	heart:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:114663692-114663742	NH-A	brain:	n/a
2	chr6:114663692-114663742	NH-A	brain:	n/a
3	chr6:114662739-114662789	HIPEpiC	eye:	n/a
4	chr6:114663972-114664022	GM12891	blood:	n/a
5	chr6:114663139-114663189	HNPCEpiC	eye:	n/a
6	chr6:114662697-114662747	RPTEC	kidney:	n/a
7	chr6:114663564-114663614	AG04449	skin:	fetal
8	chr6:114663692-114663742	AG09319	gingival:	n/a
9	chr6:114663570-114663620	AG04450	lung:	fetal
10	chr6:114663223-114663273	PFSK-1	brain:	n/a
11	chr6:114663692-114663742	K562	blood:	n/a
12	chr6:114663570-114663620	HPAEpiC	pulmonary alveolar:	n/a
13	chr6:114663570-114663620	HepG2	liver:	n/a
14	chr6:114663223-114663273	HUVEC	blood vessel:	n/a
15	chr6:114663972-114664022	H1-hESC	embryonic stem cell:	embryo
16	chr6:114663692-114663742	SK-N-SH	brain:	n/a
17	chr6:114663570-114663620	ProgFib	skin:	n/a
18	chr6:114663223-114663273	HAEpiC	amniotic membrane:	n/a
19	chr6:114663692-114663742	Jurkat	blood:	n/a
20	chr6:114663139-114663189	A549	lung:	n/a
21	chr6:114663972-114664022	LNCaP	prostate:	n/a
22	chr6:114663223-114663273	MCF10A-Er-Src	breast:	n/a
23	chr6:114663972-114664022	HCT-116	colon:	n/a
24	chr6:114662739-114662789	HPAEpiC	pulmonary alveolar:	n/a
25	chr6:114663692-114663742	BJ	skin:	n/a
26	chr6:114663139-114663189	HCM	heart:	n/a
27	chr6:114663570-114663620	MCF-7	breast:	n/a
28	chr6:114663564-114663614	MCF-7	breast:	n/a
29	chr6:114662697-114662747	PrEC	prostate:	n/a
30	chr6:114663570-114663620	HCPEpiC	choroid plexus:	n/a
31	chr6:114663139-114663189	AG10803	skin:	n/a
32	chr6:114663570-114663620	T-47D	breast:	n/a
33	chr6:114663564-114663614	AG04450	lung:	fetal
34	chr6:114662697-114662747	NHBE	bronchial:	n/a
35	chr6:114663692-114663742	AG10803	skin:	n/a
36	chr6:114663139-114663189	SAEC	small airway:	n/a
37	chr6:114663570-114663620	AoSMC	blood vessel:	n/a
38	chr6:114663972-114664022	Hepatocyte	liver:	n/a
39	chr6:114663972-114664022	AG10803	skin:	n/a
40	chr6:114662697-114662747	HPAEpiC	pulmonary alveolar:	n/a
41	chr6:114663972-114664022	NHBE	bronchial:	n/a
42	chr6:114663570-114663620	HCM	heart:	n/a
43	chr6:114663223-114663273	HEK293	kidney:	embryo
44	chr6:114663692-114663742	HCM	heart:	n/a
45	chr6:114662739-114662789	Jurkat	blood:	n/a
46	chr6:114663564-114663614	SAEC	small airway:	n/a
47	chr6:114663692-114663742	HIPEpiC	eye:	n/a
48	chr6:114662697-114662747	Hela-S3	cervix:	n/a
49	chr6:114663570-114663620	HUVEC	blood vessel:	n/a
50	chr6:114662739-114662789	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:114662119..114667220-chr6:114669334..114673077,6	MCF-7	breast:
2	chr6:114290903..114293553-chr6:114664243..114666092,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-5	chr6:114663414-114663553	NONHSAT114608
2	lnc-MARCKS-5	chr6:114663487-114663628	NONHSAT114607

No data

Variant related genes	Relation type
HS3ST5	TF binding region
HS3ST5	CpG island
ENSG00000228624	chromatin interactions
ENSG00000196591	chromatin interactions
ENSG00000218089	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572825498	chr6:114662709-114662710	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs540354751	chr6:114662731-114662732	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555390058	chr6:114662742-114662743	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs5879260	chr6:114662753-114662754	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34376216	chr6:114662754-114662755	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs3049882	chr6:114662769-114662770	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs573723756	chr6:114662812-114662813	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200664004	chr6:114662817-114662818	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544228647	chr6:114662824-114662825	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397963145	chr6:114662825-114662826	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563134132	chr6:114662836-114662837	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79694482	chr6:114662863-114662864	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117654394	chr6:114662871-114662872	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs144964672	chr6:114662945-114662946	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560765282	chr6:114662999-114663000	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79329718	chr6:114663039-114663040	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs748420	chr6:114663071-114663072	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs28580591	chr6:114663140-114663141	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560945526	chr6:114663239-114663240	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531553834	chr6:114663243-114663244	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116778000	chr6:114663256-114663257	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs568780155	chr6:114663283-114663284	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs202127550	chr6:114663291-114663292	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71566768	chr6:114663295-114663296	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551295669	chr6:114663334-114663335	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551267988	chr6:114663336-114663337	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs370051997	chr6:114663360-114663361	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566696520	chr6:114663402-114663403	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs2208945	chr6:114663405-114663406	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs5879261	chr6:114663425-114663426	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs397888518	chr6:114663429-114663430	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs540510104	chr6:114663512-114663513	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs2224692	chr6:114663524-114663525	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527646640	chr6:114663584-114663585	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs577672986	chr6:114663585-114663586	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs542974342	chr6:114663588-114663589	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs537805636	chr6:114663603-114663604	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs556216696	chr6:114663624-114663625	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs529004752	chr6:114663634-114663635	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565335883	chr6:114663635-114663636	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs545718394	chr6:114663636-114663637	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373159572	chr6:114663637-114663638	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs13204902	chr6:114663660-114663661	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572647832	chr6:114663665-114663666	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13204905	chr6:114663670-114663671	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371076442	chr6:114663673-114663674	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542817393	chr6:114663692-114663693	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs544020863	chr6:114663720-114663721	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188334168	chr6:114663776-114663777	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567693721	chr6:114663801-114663802	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114659800-114665400	Active TSS	H1 Cell Line	embryonic stem cell
2	chr6:114661000-114665000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:114661000-114665200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:114661000-114665800	Active TSS	Brain Anterior Caudate	brain
5	chr6:114661200-114665000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:114661200-114665200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:114661400-114665200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:114661400-114665400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr6:114661400-114665600	Active TSS	Brain Angular Gyrus	brain
10	chr6:114661600-114665000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr6:114661600-114665200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:114661800-114662800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr6:114661800-114665000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:114662000-114663400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr6:114662200-114662800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:114662200-114662800	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr6:114662200-114662800	Active TSS	Brain Hippocampus Middle	brain
18	chr6:114662200-114663400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:114662200-114665200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:114662200-114665400	Active TSS	Brain Substantia Nigra	brain
21	chr6:114662200-114665600	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:114662400-114662800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:114662400-114662800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:114662400-114662800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:114662400-114662800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:114662400-114662800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr6:114662400-114662800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr6:114662400-114663000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:114662400-114663200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:114662400-114663200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:114662400-114663400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:114662400-114663400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:114662400-114663400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr6:114662400-114664000	Bivalent/Poised TSS	HepG2	liver
35	chr6:114662400-114664400	Active TSS	HSMMtube	muscle
36	chr6:114662400-114665000	Active TSS	Fetal Kidney	kidney
37	chr6:114662400-114665400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:114662600-114662800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:114662600-114662800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr6:114662600-114662800	Enhancers	Fetal Heart	heart
41	chr6:114662600-114662800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr6:114662600-114662800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr6:114662600-114663000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
44	chr6:114662600-114663000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:114662600-114663000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:114662600-114663000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:114662600-114663000	Bivalent Enhancer	Fetal Thymus	thymus
48	chr6:114662600-114663200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:114662600-114663200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr6:114662600-114663200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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