Variant report

Variant	esv3434198
Chromosome Location	chr6:117802809-117805457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:639)
CpG islands
(count:366)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:117805263-117805402	K562	blood:	n/a	n/a
2	ARID3A	chr6:117803491-117803842	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:117804426-117805114	HepG2	liver:	n/a	n/a
4	BACH1	chr6:117804380-117804705	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:117803515-117803651	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr6:117805271-117805294	K562	blood:	n/a	n/a
7	BCLAF1	chr6:117803394-117803796	GM12878	blood:	n/a	chr6:117803498-117803511 chr6:117803452-117803465 chr6:117803494-117803507
8	BHLHE40	chr6:117804414-117804713	A549	lung:	n/a	n/a
9	BHLHE40	chr6:117804283-117804837	K562	blood:	n/a	n/a
10	BHLHE40	chr6:117804396-117805196	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:117802467-117803168	HepG2	liver:	n/a	n/a
12	BHLHE40	chr6:117803592-117804096	GM12878	blood:	n/a	chr6:117803874-117803890 chr6:117803628-117803644
13	BHLHE40	chr6:117802610-117802822	K562	blood:	n/a	n/a
14	BHLHE40	chr6:117803107-117803960	K562	blood:	n/a	chr6:117803497-117803513 chr6:117803874-117803890 chr6:117803628-117803644
15	BHLHE40	chr6:117803420-117804841	HepG2	liver:	n/a	chr6:117803497-117803513 chr6:117803874-117803890 chr6:117803628-117803644
16	BRCA1	chr6:117804454-117804718	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr6:117803516-117803613	HepG2	liver:	n/a	n/a
18	BRCA1	chr6:117804232-117805288	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr6:117804455-117804636	HepG2	liver:	n/a	n/a
20	CBX3	chr6:117802488-117802810	K562	blood:	n/a	n/a
21	CBX3	chr6:117803269-117803867	K562	blood:	n/a	n/a
22	CBX3	chr6:117804138-117804760	K562	blood:	n/a	n/a
23	CCNT2	chr6:117803477-117804823	K562	blood:	n/a	chr6:117804231-117804240
24	CEBPD	chr6:117803354-117804208	HepG2	liver:	n/a	n/a
25	CEBPD	chr6:117804410-117804745	HepG2	liver:	n/a	n/a
26	CHD1	chr6:117803909-117803988	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr6:117804242-117805236	GM12878	blood:	n/a	chr6:117804518-117804528
28	CHD1	chr6:117804349-117804940	H1-hESC	embryonic stem cell:	n/a	chr6:117804518-117804528
29	CHD2	chr6:117804299-117804721	H1-hESC	embryonic stem cell:	n/a	chr6:117804518-117804528
30	CHD2	chr6:117803746-117803977	HepG2	liver:	n/a	n/a
31	CHD2	chr6:117803324-117803618	K562	blood:	n/a	n/a
32	CHD2	chr6:117804274-117804725	K562	blood:	n/a	chr6:117804518-117804528
33	CHD2	chr6:117803518-117804779	Hela-S3	cervix:	n/a	chr6:117804518-117804528
34	CHD2	chr6:117804305-117804667	HepG2	liver:	n/a	chr6:117804518-117804528
35	CHD2	chr6:117803449-117803755	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr6:117803896-117804039	K562	blood:	n/a	n/a
37	CHD2	chr6:117803521-117803747	GM12878	blood:	n/a	n/a
38	CREB1	chr6:117802394-117804854	HepG2	liver:	n/a	n/a
39	CREB1	chr6:117803456-117804162	A549	lung:	n/a	n/a
40	CREB1	chr6:117803435-117804203	K562	blood:	n/a	n/a
41	CREB1	chr6:117803354-117804007	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTBP2	chr6:117802734-117804761	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr6:117803640-117803790	K562	blood:	n/a	n/a
44	CTCF	chr6:117804640-117804790	MCF-7	breast:	n/a	n/a
45	CTCF	chr6:117804553-117804654	MCF-7	breast:	n/a	n/a
46	CTCF	chr6:117802866-117802967	A549	lung:	n/a	n/a
47	CTCF	chr6:117803580-117803730	GM12872	blood:	n/a	chr6:117803630-117803643
48	CTCF	chr6:117803572-117803573	GM19239	blood:	n/a	n/a
49	CTCF	chr6:117803640-117803790	AG04449	skin:	n/a	n/a
50	CTCF	chr6:117802645-117802878	K562	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:117804230-117804280	HRCEpiC	kidney:	n/a
2	chr6:117803953-117804003	AG09319	gingival:	n/a
3	chr6:117802786-117802836	GM06990	blood:	n/a
4	chr6:117803162-117803212	HepG2	liver:	n/a
5	chr6:117804670-117804720	MCF-7	breast:	n/a
6	chr6:117804670-117804720	BE2_C	brain:	n/a
7	chr6:117803953-117804003	LNCaP	prostate:	n/a
8	chr6:117804670-117804720	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:117805050-117805100	HEEpiC	esophagus:	n/a
10	chr6:117804230-117804280	GM12892	blood:	n/a
11	chr6:117803162-117803212	HCT-116	colon:	n/a
12	chr6:117805050-117805100	HAEpiC	amniotic membrane:	n/a
13	chr6:117805050-117805100	ECC-1	luminal epithelium:	n/a
14	chr6:117802786-117802836	HRCEpiC	kidney:	n/a
15	chr6:117802786-117802836	IMR90	lung:	fetal
16	chr6:117804670-117804720	HEEpiC	esophagus:	n/a
17	chr6:117804670-117804720	NHDF-neo	bronchial:	n/a
18	chr6:117804230-117804280	Jurkat	blood:	n/a
19	chr6:117802786-117802836	A549	lung:	n/a
20	chr6:117802786-117802836	GM12891	blood:	n/a
21	chr6:117803953-117804003	HMEC	breast:	n/a
22	chr6:117802786-117802836	RPTEC	kidney:	n/a
23	chr6:117805050-117805100	ovcar-3	ovarian:	n/a
24	chr6:117803953-117804003	Hepatocyte	liver:	n/a
25	chr6:117803162-117803212	ECC-1	luminal epithelium:	n/a
26	chr6:117803162-117803212	HCM	heart:	n/a
27	chr6:117804230-117804280	HCT-116	colon:	n/a
28	chr6:117805050-117805100	HRE	kidney:	n/a
29	chr6:117802786-117802836	Hepatocyte	liver:	n/a
30	chr6:117804230-117804280	HCPEpiC	choroid plexus:	n/a
31	chr6:117803953-117804003	AG04449	skin:	fetal
32	chr6:117804670-117804720	HUVEC	blood vessel:	n/a
33	chr6:117804670-117804720	SAEC	small airway:	n/a
34	chr6:117803953-117804003	HepG2	liver:	n/a
35	chr6:117803953-117804003	PrEC	prostate:	n/a
36	chr6:117804670-117804720	HMEC	breast:	n/a
37	chr6:117804230-117804280	HRPEpiC	eye:	n/a
38	chr6:117803162-117803212	H1-hESC	embryonic stem cell:	embryo
39	chr6:117805050-117805100	GM19239	blood:	n/a
40	chr6:117804230-117804280	MCF10A-Er-Src	breast:	n/a
41	chr6:117802786-117802836	HCT-116	colon:	n/a
42	chr6:117803162-117803212	IMR90	lung:	fetal
43	chr6:117803953-117804003	IMR90	lung:	fetal
44	chr6:117803162-117803212	SK-N-SH	brain:	n/a
45	chr6:117805050-117805100	HEK293	kidney:	embryo
46	chr6:117803162-117803212	NH-A	brain:	n/a
47	chr6:117803162-117803212	ovcar-3	ovarian:	n/a
48	chr6:117803953-117804003	PFSK-1	brain:	n/a
49	chr6:117805050-117805100	NHBE	bronchial:	n/a
50	chr6:117803162-117803212	GM19239	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:117802549..117804711-chr6:117824121..117828201,5	K562	blood:
2	chr6:117802655..117804398-chr6:117864844..117866459,3	MCF-7	breast:
3	chr6:101327181..101330084-chr6:117801293..117803939,2	K562	blood:
4	chr6:117803211..117805462-chr6:117921337..117926538,8	K562	blood:
5	chr6:117798788..117807313-chr6:117921918..117925735,11	MCF-7	breast:
6	chr6:117802223..117804604-chr6:117922456..117924196,2	MCF-7	breast:
7	chr6:117803267..117806417-chr6:117823935..117828011,5	MCF-7	breast:
8	chr6:117804247..117806025-chr6:117859893..117862301,2	MCF-7	breast:
9	chr6:117803575..117805462-chr6:117921337..117926516,4	K562	blood:
10	chr21:36260495..36261026-chr6:117803965..117804818,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
DCBLD1	TF binding region
DCBLD1	CpG island
ENSG00000112249	chromatin interactions
ENSG00000260000	chromatin interactions
ENSG00000047932	chromatin interactions
ENSG00000164465	chromatin interactions
ENSG00000159216	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531043742	chr6:117802822-117802823	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs552430682	chr6:117802858-117802859	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs564468800	chr6:117802916-117802917	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs528525155	chr6:117802950-117802951	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs72963412	chr6:117802987-117802988	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs568379609	chr6:117803077-117803078	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs181367864	chr6:117803083-117803084	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs550757700	chr6:117803098-117803099	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs17079281	chr6:117803138-117803139	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs539512293	chr6:117803163-117803164	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs557616806	chr6:117803164-117803165	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs142192937	chr6:117803248-117803249	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs62433103	chr6:117803291-117803292	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186897488	chr6:117803390-117803391	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs550922145	chr6:117803418-117803419	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs117847304	chr6:117803456-117803457	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs9387480	chr6:117803463-117803464	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191474985	chr6:117803478-117803479	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs575793756	chr6:117803531-117803532	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs4946258	chr6:117803538-117803539	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs564605895	chr6:117803569-117803570	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs115901246	chr6:117803570-117803571	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs35917072	chr6:117803578-117803579	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561918352	chr6:117803591-117803592	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs569254389	chr6:117803640-117803641	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs116301253	chr6:117803672-117803673	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs34431655	chr6:117803676-117803677	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs533010198	chr6:117803698-117803699	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs35599105	chr6:117803749-117803750	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs367792382	chr6:117803767-117803768	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs376267554	chr6:117803804-117803805	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs80198830	chr6:117803824-117803825	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs533496006	chr6:117803830-117803831	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs554952405	chr6:117803841-117803842	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs566963941	chr6:117803853-117803854	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs536142547	chr6:117804004-117804005	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs557396590	chr6:117804121-117804122	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs568118087	chr6:117804122-117804123	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs62433105	chr6:117804132-117804133	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs575779526	chr6:117804134-117804135	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs62433106	chr6:117804138-117804139	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs62433107	chr6:117804146-117804147	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
43	rs112633012	chr6:117804152-117804153	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs573378621	chr6:117804155-117804156	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs540594502	chr6:117804164-117804165	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs538372554	chr6:117804220-117804221	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs529318788	chr6:117804231-117804232	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs556919071	chr6:117804242-117804243	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs575157395	chr6:117804288-117804289	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188618272	chr6:117804292-117804293	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
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
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
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
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117799800-117803000	Weak transcription	Ovary	ovary
2	chr6:117800000-117803200	Weak transcription	HSMM	muscle
3	chr6:117800200-117803000	Weak transcription	NHDF-Ad	bronchial
4	chr6:117800200-117803200	Weak transcription	HSMMtube	muscle
5	chr6:117800200-117803400	Weak transcription	Small Intestine	intestine
6	chr6:117802200-117803200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:117802200-117803200	Enhancers	NHEK	skin
8	chr6:117802400-117803000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:117802400-117803000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr6:117802400-117803000	Enhancers	Stomach Mucosa	stomach
11	chr6:117802400-117803600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr6:117802400-117803800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:117802400-117806400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
15	chr6:117802600-117803000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:117802600-117803000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
17	chr6:117802600-117803000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:117802600-117803000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr6:117802600-117803000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:117802600-117803000	Bivalent Enhancer	Fetal Brain Male	brain
22	chr6:117802600-117803000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr6:117802600-117803200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:117802600-117803200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:117802600-117803200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:117802600-117803200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:117802600-117803200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:117802600-117803200	Enhancers	Placenta	Placenta
29	chr6:117802600-117803200	Enhancers	Left Ventricle	heart
30	chr6:117802600-117803200	Enhancers	HUVEC	blood vessel
31	chr6:117802600-117803400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:117802600-117803400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:117802600-117803400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:117802600-117803400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr6:117802600-117803400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr6:117802600-117803400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:117802600-117803400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:117802600-117803400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:117802600-117803400	Enhancers	Pancreas	Pancrea
40	chr6:117802600-117803400	Enhancers	Right Atrium	heart
41	chr6:117802600-117803400	Enhancers	Right Ventricle	heart
42	chr6:117802600-117803400	Enhancers	HMEC	breast
43	chr6:117802600-117803600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:117802600-117803600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:117802600-117803600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:117802600-117803600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr6:117802600-117803600	Flanking Active TSS	GM12878-XiMat	blood
48	chr6:117802600-117803600	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr6:117802600-117803600	Flanking Active TSS	K562	blood
50	chr6:117802600-117803800	Bivalent Enhancer	Fetal Thymus	thymus

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