Variant report

Variant	esv3371732
Chromosome Location	chr11:75235729-75238277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:540)
CpG islands
(count:794)
Chromatin interactive
region (count:14)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:75236936-75237045	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:75236935-75237062	K562	blood:	n/a	n/a
3	ATF3	chr11:75236836-75237131	K562	blood:	n/a	chr11:75236836-75236845
4	BACH1	chr11:75236851-75237503	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:75235727-75235792	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr11:75236853-75237238	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:75234935-75235765	HepG2	liver:	n/a	n/a
8	BHLHE40	chr11:75236483-75237176	GM12878	blood:	n/a	chr11:75237009-75237025
9	BHLHE40	chr11:75234984-75235761	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:75235386-75235904	K562	blood:	n/a	n/a
11	BHLHE40	chr11:75236410-75237193	K562	blood:	n/a	chr11:75237009-75237025
12	CBX3	chr11:75236704-75237281	K562	blood:	n/a	n/a
13	CCNT2	chr11:75236215-75237336	K562	blood:	n/a	chr11:75237243-75237252
14	CEBPB	chr11:75236833-75237190	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr11:75237131-75237194	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPD	chr11:75236876-75237142	HepG2	liver:	n/a	n/a
17	CHD1	chr11:75236627-75236664	GM12878	blood:	n/a	n/a
18	CHD1	chr11:75236090-75237238	IMR90	lung:	n/a	chr11:75236602-75236609
19	CHD2	chr11:75235929-75235966	HepG2	liver:	n/a	n/a
20	CHD2	chr11:75236997-75237243	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr11:75236784-75237239	GM12878	blood:	n/a	n/a
22	CHD2	chr11:75236772-75237325	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr11:75236851-75237241	K562	blood:	n/a	n/a
24	CHD2	chr11:75236869-75237191	HepG2	liver:	n/a	n/a
25	CREB1	chr11:75236769-75237233	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr11:75236694-75237354	A549	lung:	n/a	n/a
27	CTBP2	chr11:75236150-75237162	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr11:75236900-75237050	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr11:75236880-75237030	HRE	kidney:	n/a	n/a
30	CTCF	chr11:75236920-75237070	RPTEC	kidney:	n/a	n/a
31	CTCF	chr11:75236862-75237132	MCF-7	breast:	n/a	n/a
32	CTCF	chr11:75236920-75237070	HCT-116	colon:	n/a	n/a
33	CTCF	chr11:75236180-75236330	GM06990	blood:	n/a	n/a
34	CTCF	chr11:75236130-75237379	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr11:75236836-75237214	GM19238	blood:	n/a	n/a
36	CTCF	chr11:75237180-75237330	Caco-2	colon:	n/a	n/a
37	CTCF	chr11:75236776-75237171	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:75236880-75237030	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr11:75236960-75237110	WI-38	lung:	n/a	n/a
40	CTCF	chr11:75236877-75237122	Gliobla	brain:	n/a	n/a
41	CTCF	chr11:75236880-75237030	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:75236900-75237050	Caco-2	colon:	n/a	n/a
43	CTCF	chr11:75236900-75237050	AG04449	skin:	n/a	n/a
44	CTCF	chr11:75236880-75237030	HPF	lung:	n/a	n/a
45	CTCF	chr11:75236960-75237110	AG09309	skin:	n/a	n/a
46	CTCF	chr11:75237120-75237121	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr11:75236880-75237030	GM12869	blood:	n/a	n/a
48	CTCF	chr11:75236880-75237030	HMF	breast:	n/a	n/a
49	CTCF	chr11:75236940-75237090	MCF-7	breast:	n/a	n/a
50	CTCF	chr11:75236770-75237180	T-47D	breast:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75236918-75236968	AG09319	gingival:	n/a
2	chr11:75236918-75236968	AG09319	gingival:	n/a
3	chr11:75237679-75237729	AG10803	skin:	n/a
4	chr11:75236762-75236812	H1-hESC	embryonic stem cell:	embryo
5	chr11:75236459-75236509	NH-A	brain:	n/a
6	chr11:75237739-75237789	HAEpiC	amniotic membrane:	n/a
7	chr11:75236607-75236657	CMK	blood:	n/a
8	chr11:75237935-75237985	HEEpiC	esophagus:	n/a
9	chr11:75236771-75236821	SK-N-MC	brain:	n/a
10	chr11:75236771-75236821	HRPEpiC	eye:	n/a
11	chr11:75236607-75236657	HNPCEpiC	eye:	n/a
12	chr11:75237739-75237789	HCPEpiC	choroid plexus:	n/a
13	chr11:75237679-75237729	PrEC	prostate:	n/a
14	chr11:75236614-75236664	HRCEpiC	kidney:	n/a
15	chr11:75237679-75237729	K562	blood:	n/a
16	chr11:75237679-75237729	AoSMC	blood vessel:	n/a
17	chr11:75237739-75237789	HIPEpiC	eye:	n/a
18	chr11:75237739-75237789	PANC-1	pancreas:	n/a
19	chr11:75236771-75236821	K562	blood:	n/a
20	chr11:75237679-75237729	BE2_C	brain:	n/a
21	chr11:75236918-75236968	HepG2	liver:	n/a
22	chr11:75237526-75237576	ProgFib	skin:	n/a
23	chr11:75236781-75236831	PrEC	prostate:	n/a
24	chr11:75236908-75236958	HRE	kidney:	n/a
25	chr11:75236908-75236958	ProgFib	skin:	n/a
26	chr11:75236908-75236958	AG10803	skin:	n/a
27	chr11:75237526-75237576	Jurkat	blood:	n/a
28	chr11:75236908-75236958	PFSK-1	brain:	n/a
29	chr11:75236908-75236958	HCT-116	colon:	n/a
30	chr11:75236614-75236664	HNPCEpiC	eye:	n/a
31	chr11:75237935-75237985	GM12892	blood:	n/a
32	chr11:75236908-75236958	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:75236607-75236657	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:75237636-75237686	Jurkat	blood:	n/a
35	chr11:75237679-75237729	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:75236918-75236968	HEK293	kidney:	embryo
37	chr11:75236918-75236968	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:75236762-75236812	NH-A	brain:	n/a
39	chr11:75237935-75237985	GM12878	blood:	n/a
40	chr11:75236762-75236812	BJ	skin:	n/a
41	chr11:75236459-75236509	AG10803	skin:	n/a
42	chr11:75236762-75236812	HNPCEpiC	eye:	n/a
43	chr11:75236459-75236509	HPAEpiC	pulmonary alveolar:	n/a
44	chr11:75236459-75236509	HepG2	liver:	n/a
45	chr11:75236762-75236812	HMEC	breast:	n/a
46	chr11:75237935-75237985	HNPCEpiC	eye:	n/a
47	chr11:75237739-75237789	PFSK-1	brain:	n/a
48	chr11:75236762-75236812	HEEpiC	esophagus:	n/a
49	chr11:75237935-75237985	BJ	skin:	n/a
50	chr11:75236771-75236821	HAEpiC	amniotic membrane:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75189541..75191420-chr11:75235512..75237815,2	K562	blood:
2	chr11:75237299..75240439-chr11:75240867..75243986,5	MCF-7	breast:
3	chr11:75236530..75237129-chr12:53845680..53846296,2	Hela-S3	cervix:
4	chr11:75162095..75164647-chr11:75235506..75237767,3	MCF-7	breast:
5	chr11:75157273..75157790-chr11:75236951..75237454,2	MCF-7	breast:
6	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
7	chr11:75232287..75234755-chr11:75237989..75239575,2	MCF-7	breast:
8	chr11:75108861..75111951-chr11:75234433..75238212,4	K562	blood:
9	chr11:75045439..75047359-chr11:75234141..75236360,2	MCF-7	breast:
10	chr11:75236692..75237261-chr16:28834106..28834824,2	Hela-S3	cervix:
11	chr11:75189920..75194162-chr11:75235512..75239199,3	K562	blood:
12	chr11:75109262..75112458-chr11:75235870..75238742,4	MCF-7	breast:
13	chr11:75108861..75112568-chr11:75234338..75239079,8	K562	blood:
14	chr11:75218923..75220446-chr11:75235371..75237646,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL35-4	chr11:75236329-75236618	NONHSAT023108
2	lnc-KLHL35-4	chr11:75236255-75236419	NONHSAT023105
3	lnc-KLHL35-4	chr11:75236255-75236301	NONHSAT023107
4	lnc-KLHL35-4	chr11:75236834-75236909	NONHSAT023108

No data

Variant related genes	Relation type
GDPD5	TF binding region
GDPD5	CpG island
ENSG00000149273	chromatin interactions
ENSG00000254460	chromatin interactions
ENSG00000206941	chromatin interactions
ENSG00000149243	chromatin interactions
ENSG00000158555	chromatin interactions
ENSG00000199090	chromatin interactions
ENSG00000168488	chromatin interactions
ENSG00000197111	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192793430	chr11:75235771-75235772	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs150724185	chr11:75235807-75235808	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs75560619	chr11:75235833-75235834	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs77511609	chr11:75235877-75235878	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs184428522	chr11:75235880-75235881	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs34143147	chr11:75235931-75235932	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs546760054	chr11:75235944-75235945	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs531755859	chr11:75236067-75236068	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs115258263	chr11:75236076-75236077	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs80235095	chr11:75236077-75236078	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs559069639	chr11:75236090-75236091	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs575867140	chr11:75236128-75236129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs538123809	chr11:75236169-75236170	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs554823967	chr11:75236229-75236230	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs7949062	chr11:75236274-75236275	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540228964	chr11:75236315-75236316	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs7949091	chr11:75236333-75236334	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7934513	chr11:75236422-75236423	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544891321	chr11:75236479-75236480	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs565062650	chr11:75236518-75236519	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs530703144	chr11:75236556-75236557	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
22	rs550929283	chr11:75236580-75236581	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
23	rs561158694	chr11:75236607-75236608	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
24	rs529762468	chr11:75236631-75236632	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs546574829	chr11:75236635-75236636	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs566456023	chr11:75236650-75236651	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs71466372	chr11:75236787-75236788	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552521190	chr11:75236856-75236857	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
29	rs569465741	chr11:75236858-75236859	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
30	rs538037324	chr11:75236920-75236921	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs554887445	chr11:75236938-75236939	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs574741793	chr11:75237005-75237006	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs7927458	chr11:75237020-75237021	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
34	rs554100734	chr11:75237051-75237052	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs577288514	chr11:75237080-75237081	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs546306065	chr11:75237223-75237224	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs7924708	chr11:75237316-75237317	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112889304	chr11:75237366-75237367	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs7938523	chr11:75237411-75237412	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs544418722	chr11:75237436-75237437	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs561170905	chr11:75237437-75237438	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs187703183	chr11:75237455-75237456	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs539865369	chr11:75237472-75237473	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs547166511	chr11:75237479-75237480	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs139073431	chr11:75237485-75237486	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs531992577	chr11:75237569-75237570	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs193229285	chr11:75237626-75237627	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs568605977	chr11:75237661-75237662	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs568686696	chr11:75237684-75237685	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs370701194	chr11:75237716-75237717	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75232200-75236200	Weak transcription	Aorta	Aorta
2	chr11:75234000-75235800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:75234200-75235800	Flanking Active TSS	HSMMtube	muscle
4	chr11:75234200-75236600	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr11:75234400-75236000	Enhancers	Lung	lung
6	chr11:75234400-75236000	Flanking Active TSS	Pancreas	Pancrea
7	chr11:75234600-75235800	Flanking Active TSS	Placenta	Placenta
8	chr11:75234600-75236600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr11:75234800-75235800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:75234800-75235800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:75234800-75235800	Enhancers	Psoas Muscle	Psoas
12	chr11:75234800-75236000	Enhancers	Liver	Liver
13	chr11:75234800-75236000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr11:75234800-75236000	Enhancers	Ovary	ovary
15	chr11:75234800-75236000	Flanking Active TSS	HSMM	muscle
16	chr11:75234800-75236600	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr11:75235000-75235800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:75235000-75235800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:75235000-75235800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:75235000-75235800	Bivalent Enhancer	Fetal Thymus	thymus
21	chr11:75235000-75235800	Enhancers	Right Ventricle	heart
22	chr11:75235000-75235800	Enhancers	K562	blood
23	chr11:75235000-75236000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr11:75235000-75236000	Enhancers	Left Ventricle	heart
25	chr11:75235000-75236000	Flanking Active TSS	Spleen	Spleen
26	chr11:75235000-75236400	Flanking Active TSS	GM12878-XiMat	blood
27	chr11:75235000-75236600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:75235200-75235800	Bivalent Enhancer	Colonic Mucosa	Colon
29	chr11:75235200-75236000	Bivalent Enhancer	Primary B cells from cord blood	blood
30	chr11:75235200-75236000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:75235200-75236000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr11:75235200-75236400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr11:75235200-75236600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr11:75235200-75236600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr11:75235200-75236600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
36	chr11:75235200-75236600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:75235200-75236600	Flanking Active TSS	Hela-S3	cervix
38	chr11:75235200-75236600	Flanking Active TSS	HUVEC	blood vessel
39	chr11:75235200-75237600	Active TSS	Brain Hippocampus Middle	brain
40	chr11:75235200-75237800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:75235200-75237800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:75235400-75235800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:75235400-75235800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:75235400-75235800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:75235400-75235800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:75235400-75235800	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr11:75235400-75235800	Enhancers	Esophagus	oesophagus
48	chr11:75235400-75235800	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr11:75235400-75235800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr11:75235400-75235800	Flanking Active TSS	Dnd41	blood

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