Variant report

Variant	nsv8775
Chromosome Location	chr11:3663012-3664867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr11:3663209-3663719	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr11:3663244-3663670	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr11:3663693-3664003	K562	blood:	n/a	n/a
4	BACH1	chr11:3663480-3663584	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:3663791-3664352	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr11:3663320-3664175	K562	blood:	n/a	chr11:3663382-3663398 chr11:3663567-3663583 chr11:3663448-3663464
7	BHLHE40	chr11:3663388-3664125	HepG2	liver:	n/a	chr11:3663567-3663583 chr11:3663448-3663464
8	BRCA1	chr11:3663383-3663568	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr11:3663165-3663682	K562	blood:	n/a	n/a
10	CBX3	chr11:3664322-3664810	K562	blood:	n/a	n/a
11	CBX3	chr11:3663683-3664177	K562	blood:	n/a	n/a
12	CCNT2	chr11:3663210-3664109	K562	blood:	n/a	chr11:3663964-3663973
13	CEBPB	chr11:3663456-3663825	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPD	chr11:3663218-3663659	HepG2	liver:	n/a	n/a
15	CHD2	chr11:3663301-3663353	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr11:3663285-3663467	HepG2	liver:	n/a	n/a
17	CHD2	chr11:3663811-3664098	K562	blood:	n/a	n/a
18	CHD2	chr11:3663325-3664168	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:3663870-3664163	HepG2	liver:	n/a	n/a
20	CTCF	chr11:3663360-3663510	BJ	skin:	n/a	chr11:3663424-3663437
21	CTCF	chr11:3663480-3663630	HCPEpiC	choroid plexus:	n/a	chr11:3663574-3663587
22	CTCF	chr11:3663460-3663610	AG04450	lung:	n/a	chr11:3663574-3663587
23	CTCF	chr11:3663380-3663530	Caco-2	colon:	n/a	chr11:3663424-3663437
24	E2F4	chr11:3663412-3663615	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr11:3663185-3664014	K562	blood:	n/a	chr11:3663263-3663272 chr11:3663243-3663253
26	E2F6	chr11:3663287-3664017	K562	blood:	n/a	n/a
27	E2F6	chr11:3663293-3663966	A549	lung:	n/a	n/a
28	E2F6	chr11:3663188-3664149	H1-hESC	embryonic stem cell:	n/a	chr11:3663263-3663272 chr11:3663243-3663253
29	E2F6	chr11:3663306-3663646	K562	blood:	n/a	n/a
30	E2F6	chr11:3663278-3664078	K562	blood:	n/a	n/a
31	E2F6	chr11:3663024-3664064	H1-hESC	embryonic stem cell:	n/a	chr11:3663263-3663272 chr11:3663243-3663253
32	EGR1	chr11:3663076-3663639	K562	blood:	n/a	chr11:3663230-3663252 chr11:3663235-3663246 chr11:3663234-3663247 chr11:3663122-3663135 chr11:3663263-3663273 chr11:3663234-3663247 chr11:3663234-3663247 chr11:3663237-3663246 chr11:3663264-3663277 chr11:3663239-3663249 chr11:3663386-3663399 chr11:3663284-3663297 chr11:3663236-3663246 chr11:3663234-3663247 chr11:3663234-3663248 chr11:3663235-3663246 chr11:3663236-3663246 chr11:3663233-3663248
33	EGR1	chr11:3663120-3663955	H1-hESC	embryonic stem cell:	n/a	chr11:3663230-3663252 chr11:3663235-3663246 chr11:3663234-3663247 chr11:3663122-3663135 chr11:3663263-3663273 chr11:3663234-3663247 chr11:3663234-3663247 chr11:3663237-3663246 chr11:3663264-3663277 chr11:3663239-3663249 chr11:3663386-3663399 chr11:3663284-3663297 chr11:3663236-3663246 chr11:3663234-3663247 chr11:3663234-3663248 chr11:3663235-3663246 chr11:3663236-3663246 chr11:3663233-3663248
34	EGR1	chr11:3662961-3664090	HCT-116	colon:	n/a	chr11:3663230-3663252 chr11:3663235-3663246 chr11:3663234-3663247 chr11:3662973-3662982 chr11:3663122-3663135 chr11:3663263-3663273 chr11:3663234-3663247 chr11:3663234-3663247 chr11:3663237-3663246 chr11:3663264-3663277 chr11:3663239-3663249 chr11:3663386-3663399 chr11:3663284-3663297 chr11:3663236-3663246 chr11:3663234-3663247 chr11:3663234-3663248 chr11:3663235-3663246 chr11:3663236-3663246 chr11:3663233-3663248
35	EGR1	chr11:3663688-3663992	K562	blood:	n/a	n/a
36	EGR1	chr11:3663089-3663972	K562	blood:	n/a	chr11:3663230-3663252 chr11:3663235-3663246 chr11:3663234-3663247 chr11:3663122-3663135 chr11:3663263-3663273 chr11:3663234-3663247 chr11:3663234-3663247 chr11:3663237-3663246 chr11:3663264-3663277 chr11:3663239-3663249 chr11:3663386-3663399 chr11:3663284-3663297 chr11:3663236-3663246 chr11:3663234-3663247 chr11:3663234-3663248 chr11:3663235-3663246 chr11:3663236-3663246 chr11:3663233-3663248
37	ELF1	chr11:3663140-3663640	K562	blood:	n/a	chr11:3663568-3663580
38	ELF1	chr11:3663163-3663597	K562	blood:	n/a	chr11:3663568-3663580
39	ELF1	chr11:3664472-3664757	K562	blood:	n/a	n/a
40	EP300	chr11:3664505-3664568	K562	blood:	n/a	n/a
41	EP300	chr11:3663306-3663684	HepG2	liver:	n/a	n/a
42	EP300	chr11:3663263-3663733	H1-hESC	embryonic stem cell:	n/a	n/a
43	EP300	chr11:3663354-3664192	K562	blood:	n/a	chr11:3663863-3663876
44	ETS1	chr11:3663294-3663653	K562	blood:	n/a	chr11:3663389-3663400
45	ETS1	chr11:3663146-3663758	K562	blood:	n/a	chr11:3663266-3663277 chr11:3663389-3663400 chr11:3663264-3663275
46	FOXA1	chr11:3663707-3664156	HepG2	liver:	n/a	n/a
47	FOXA1	chr11:3663857-3664138	HepG2	liver:	n/a	n/a
48	FOXA1	chr11:3663698-3664211	HepG2	liver:	n/a	n/a
49	FOXA2	chr11:3663843-3664172	A549	lung:	n/a	n/a
50	FOXA2	chr11:3663836-3664159	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:3662967-3663017	HEEpiC	esophagus:	n/a
2	chr11:3662967-3663017	HEEpiC	esophagus:	n/a
3	chr11:3663198-3663248	SK-N-SH_RA	brain:	n/a
4	chr11:3663842-3663892	PrEC	prostate:	n/a
5	chr11:3663777-3663827	HPAEpiC	pulmonary alveolar:	n/a
6	chr11:3662967-3663017	GM12892	blood:	n/a
7	chr11:3663511-3663561	PFSK-1	brain:	n/a
8	chr11:3663543-3663593	PFSK-1	brain:	n/a
9	chr11:3663801-3663851	HRE	kidney:	n/a
10	chr11:3662967-3663017	GM12878	blood:	n/a
11	chr11:3663372-3663422	NHDF-neo	bronchial:	n/a
12	chr11:3663543-3663593	CMK	blood:	n/a
13	chr11:3663511-3663561	HUVEC	blood vessel:	n/a
14	chr11:3663801-3663851	NH-A	brain:	n/a
15	chr11:3663198-3663248	GM06990	blood:	n/a
16	chr11:3663777-3663827	NHDF-neo	bronchial:	n/a
17	chr11:3663644-3663694	HMEC	breast:	n/a
18	chr11:3663842-3663892	HL-60	blood:	n/a
19	chr11:3663511-3663561	RPTEC	kidney:	n/a
20	chr11:3663773-3663823	K562	blood:	n/a
21	chr11:3663543-3663593	BE2_C	brain:	n/a
22	chr11:3663198-3663248	AG04449	skin:	fetal
23	chr11:3663198-3663248	ECC-1	luminal epithelium:	n/a
24	chr11:3663644-3663694	NB4	blood:	n/a
25	chr11:3663532-3663582	Hela-S3	cervix:	n/a
26	chr11:3663773-3663823	AG09309	skin:	n/a
27	chr11:3663773-3663823	LNCaP	prostate:	n/a
28	chr11:3663532-3663582	AG09319	gingival:	n/a
29	chr11:3663777-3663827	AG04449	skin:	fetal
30	chr11:3663532-3663582	MCF10A-Er-Src	breast:	n/a
31	chr11:3662967-3663017	HRE	kidney:	n/a
32	chr11:3663491-3663541	HNPCEpiC	eye:	n/a
33	chr11:3663543-3663593	T-47D	breast:	n/a
34	chr11:3662967-3663017	PANC-1	pancreas:	n/a
35	chr11:3663491-3663541	SK-N-MC	brain:	n/a
36	chr11:3663511-3663561	Hepatocyte	liver:	n/a
37	chr11:3663773-3663823	BJ	skin:	n/a
38	chr11:3663773-3663823	AG09319	gingival:	n/a
39	chr11:3663372-3663422	HNPCEpiC	eye:	n/a
40	chr11:3663198-3663248	HIPEpiC	eye:	n/a
41	chr11:3663543-3663593	SKMC	muscle:	n/a
42	chr11:3663511-3663561	HRPEpiC	eye:	n/a
43	chr11:3663543-3663593	ProgFib	skin:	n/a
44	chr11:3663777-3663827	AG04450	lung:	fetal
45	chr11:3663777-3663827	HIPEpiC	eye:	n/a
46	chr11:3663644-3663694	U87	brain:	n/a
47	chr11:3663511-3663561	H1-hESC	embryonic stem cell:	embryo
48	chr11:3663842-3663892	A549	lung:	n/a
49	chr11:3663198-3663248	NH-A	brain:	n/a
50	chr11:3663491-3663541	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3661894..3664122-chr11:3664715..3667131,2	K562	blood:
2	chr11:3661894..3664122-chr11:3664715..3667131,2	K562	blood:
3	chr11:3663179..3665930-chr11:3817516..3820122,2	K562	blood:

Variant related genes	Relation type
ART5	TF binding region
ART1	TF binding region
ART5	CpG island
ART1	CpG island
ENSG00000148985	chromatin interactions
ENSG00000167311	chromatin interactions
ENSG00000129744	chromatin interactions
ENSG00000110713	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373191973	chr11:3663014-3663015	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs75902876	chr11:3663021-3663022	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113595429	chr11:3663029-3663030	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373955185	chr11:3663030-3663031	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs201448444	chr11:3663031-3663032	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs367789720	chr11:3663033-3663034	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs200394704	chr11:3663045-3663046	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs549422035	chr11:3663053-3663054	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs570933082	chr11:3663060-3663061	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs140690198	chr11:3663062-3663063	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs370246058	chr11:3663081-3663082	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs547488227	chr11:3663106-3663107	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs186288049	chr11:3663122-3663123	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs7933740	chr11:3663131-3663132	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536890661	chr11:3663139-3663140	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs368588127	chr11:3663142-3663143	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs570184920	chr11:3663162-3663163	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs7111519	chr11:3663170-3663171	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs559056024	chr11:3663187-3663188	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs577342840	chr11:3663194-3663195	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs534992067	chr11:3663198-3663199	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs7128137	chr11:3663201-3663202	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs35896220	chr11:3663221-3663222	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs386749917	chr11:3663222-3663223	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs139864558	chr11:3663224-3663225	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs542868999	chr11:3663266-3663267	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs7112533	chr11:3663273-3663274	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs376364712	chr11:3663278-3663279	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs138770511	chr11:3663336-3663337	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs114521514	chr11:3663339-3663340	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs142402035	chr11:3663353-3663354	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs564622810	chr11:3663360-3663361	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs532009142	chr11:3663395-3663396	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs546986821	chr11:3663396-3663397	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs1567921	chr11:3663409-3663410	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs3813888	chr11:3663422-3663423	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs548834502	chr11:3663423-3663424	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs149304187	chr11:3663440-3663441	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs537623105	chr11:3663452-3663453	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs4387377	chr11:3663466-3663467	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs386749919	chr11:3663474-3663475	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs3841367	chr11:3663475-3663476	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs549793258	chr11:3663484-3663485	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs7934216	chr11:3663496-3663497	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs574730966	chr11:3663516-3663517	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs111648560	chr11:3663533-3663534	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs536179973	chr11:3663549-3663550	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs7924355	chr11:3663552-3663553	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185534003	chr11:3663587-3663588	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs543191639	chr11:3663595-3663596	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3661200-3663200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr11:3662400-3663400	Weak transcription	Right Atrium	heart
3	chr11:3662400-3663800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:3662600-3663200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:3662600-3663200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr11:3662600-3663800	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:3662600-3664600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:3662800-3663200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:3662800-3663200	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:3662800-3663200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr11:3662800-3663200	Flanking Active TSS	K562	blood
12	chr11:3662800-3663400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:3662800-3663400	Active TSS	Stomach Smooth Muscle	stomach
14	chr11:3662800-3663600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
15	chr11:3662800-3663800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:3662800-3663800	Enhancers	Fetal Brain Male	brain
17	chr11:3662800-3663800	Active TSS	Rectal Smooth Muscle	rectum
18	chr11:3662800-3664000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:3662800-3664200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:3662800-3664200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:3662800-3664200	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:3662800-3664400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr11:3662800-3664400	Active TSS	Fetal Kidney	kidney
24	chr11:3662800-3664600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:3662800-3664600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:3662800-3664800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr11:3662800-3664800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:3663000-3663200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:3663000-3663200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
30	chr11:3663000-3663200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:3663000-3663200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
34	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
35	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
36	chr11:3663000-3663200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:3663000-3663200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:3663000-3663200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr11:3663000-3663200	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr11:3663000-3663200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr11:3663000-3663200	Flanking Active TSS	Gastric	stomach
45	chr11:3663000-3663200	Flanking Active TSS	Ovary	ovary
46	chr11:3663000-3663200	Flanking Active TSS	HepG2	liver
47	chr11:3663000-3663400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
48	chr11:3663000-3663400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr11:3663000-3663400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:3663000-3663400	Active TSS	Primary T helper cells fromperipheralblood	blood

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