Variant report

Variant	esv1813337
Chromosome Location	chr11:67217703-67235815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:907)
CpG islands
(count:1647)
Chromatin interactive
region (count:67)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67231523-67231859	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:67232778-67232856	K562	blood:	n/a	n/a
3	ATF1	chr11:67231346-67231708	K562	blood:	n/a	n/a
4	ATF2	chr11:67227175-67228067	GM12878	blood:	n/a	n/a
5	ATF2	chr11:67227254-67227663	GM12878	blood:	n/a	n/a
6	ATF2	chr11:67231929-67232502	GM12878	blood:	n/a	n/a
7	ATF3	chr11:67231309-67231731	K562	blood:	n/a	chr11:67231522-67231542
8	ATF3	chr11:67232066-67232217	K562	blood:	n/a	chr11:67232171-67232180
9	ATF3	chr11:67231381-67231804	K562	blood:	n/a	chr11:67231522-67231542
10	ATF3	chr11:67231321-67232203	A549	lung:	n/a	chr11:67231522-67231542 chr11:67232171-67232180
11	BACH1	chr11:67231471-67231647	K562	blood:	n/a	n/a
12	BCL3	chr11:67231274-67232491	A549	lung:	n/a	chr11:67231590-67231603 chr11:67232361-67232370 chr11:67231608-67231621
13	BCL3	chr11:67232538-67233171	A549	lung:	n/a	n/a
14	BCL3	chr11:67231290-67232000	A549	lung:	n/a	chr11:67231590-67231603 chr11:67231608-67231621
15	BCLAF1	chr11:67227173-67227809	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:67231979-67232423	HepG2	liver:	n/a	chr11:67232388-67232404
17	BHLHE40	chr11:67230694-67230880	K562	blood:	n/a	n/a
18	BHLHE40	chr11:67231372-67232500	K562	blood:	n/a	chr11:67232388-67232404
19	BHLHE40	chr11:67231904-67232437	GM12878	blood:	n/a	chr11:67232388-67232404
20	BHLHE40	chr11:67227390-67227621	GM12878	blood:	n/a	n/a
21	BRCA1	chr11:67231364-67232430	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr11:67226870-67226931	GM12878	blood:	n/a	n/a
23	BRCA1	chr11:67231476-67231550	HepG2	liver:	n/a	n/a
24	CBX3	chr11:67231163-67232560	K562	blood:	n/a	n/a
25	CCNT2	chr11:67231397-67232858	K562	blood:	n/a	chr11:67231594-67231603 chr11:67231588-67231597
26	CEBPB	chr11:67227250-67227911	GM12878	blood:	n/a	n/a
27	CEBPB	chr11:67231390-67231742	HepG2	liver:	n/a	n/a
28	CEBPB	chr11:67231235-67231725	K562	blood:	n/a	n/a
29	CEBPB	chr11:67231162-67231761	A549	lung:	n/a	n/a
30	CEBPB	chr11:67231169-67232344	Hela-S3	cervix:	n/a	n/a
31	CEBPD	chr11:67231938-67232472	HepG2	liver:	n/a	n/a
32	CHD1	chr11:67232022-67232554	GM12878	blood:	n/a	n/a
33	CHD1	chr11:67232318-67232322	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr11:67232401-67232428	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr11:67235009-67235169	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr11:67232808-67232831	GM12878	blood:	n/a	n/a
37	CHD2	chr11:67231314-67232511	Hela-S3	cervix:	n/a	n/a
38	CHD2	chr11:67234014-67234021	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr11:67235705-67237091	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr11:67231476-67231767	HepG2	liver:	n/a	n/a
41	CHD2	chr11:67231940-67232510	GM12878	blood:	n/a	n/a
42	CHD2	chr11:67232394-67232437	K562	blood:	n/a	n/a
43	CHD2	chr11:67231318-67232087	K562	blood:	n/a	n/a
44	CREB1	chr11:67231268-67232735	HepG2	liver:	n/a	n/a
45	CREB1	chr11:67231353-67231663	A549	lung:	n/a	n/a
46	CREB1	chr11:67231950-67232522	A549	lung:	n/a	n/a
47	CREB1	chr11:67231255-67231825	A549	lung:	n/a	n/a
48	CREB1	chr11:67231171-67231877	K562	blood:	n/a	n/a
49	CREB1	chr11:67231093-67232282	K562	blood:	n/a	n/a
50	CTCF	chr11:67227300-67227450	GM12866	blood:	n/a	n/a

(count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67220223-67220273	HCM	heart:	n/a
2	chr11:67222073-67222123	NHDF-neo	bronchial:	n/a
3	chr11:67224103-67224153	HUVEC	blood vessel:	n/a
4	chr11:67231878-67231928	HIPEpiC	eye:	n/a
5	chr11:67220263-67220313	NB4	blood:	n/a
6	chr11:67219859-67219909	GM19239	blood:	n/a
7	chr11:67220043-67220093	NH-A	brain:	n/a
8	chr11:67229020-67229070	GM12891	blood:	n/a
9	chr11:67219295-67219345	Jurkat	blood:	n/a
10	chr11:67219241-67219291	K562	blood:	n/a
11	chr11:67219295-67219345	RPTEC	kidney:	n/a
12	chr11:67222648-67222698	HCM	heart:	n/a
13	chr11:67222073-67222123	SK-N-MC	brain:	n/a
14	chr11:67220043-67220093	SK-N-MC	brain:	n/a
15	chr11:67221691-67221741	HCT-116	colon:	n/a
16	chr11:67225937-67225987	Hela-S3	cervix:	n/a
17	chr11:67232269-67232319	HIPEpiC	eye:	n/a
18	chr11:67221264-67221314	U87	brain:	n/a
19	chr11:67224103-67224153	HRCEpiC	kidney:	n/a
20	chr11:67219631-67219681	NT2-D1	testis:	n/a
21	chr11:67229020-67229070	Hepatocyte	liver:	n/a
22	chr11:67220318-67220368	BE2_C	brain:	n/a
23	chr11:67234346-67234396	AG10803	skin:	n/a
24	chr11:67220043-67220093	ECC-1	luminal epithelium:	n/a
25	chr11:67231878-67231928	SAEC	small airway:	n/a
26	chr11:67220263-67220313	Hepatocyte	liver:	n/a
27	chr11:67224103-67224153	HAEpiC	amniotic membrane:	n/a
28	chr11:67224103-67224153	HIPEpiC	eye:	n/a
29	chr11:67220223-67220273	PANC-1	pancreas:	n/a
30	chr11:67221264-67221314	HUVEC	blood vessel:	n/a
31	chr11:67219631-67219681	AG09319	gingival:	n/a
32	chr11:67223174-67223224	HNPCEpiC	eye:	n/a
33	chr11:67221691-67221741	HIPEpiC	eye:	n/a
34	chr11:67231878-67231928	RPTEC	kidney:	n/a
35	chr11:67222073-67222123	HUVEC	blood vessel:	n/a
36	chr11:67232269-67232319	NHDF-neo	bronchial:	n/a
37	chr11:67229020-67229070	HRE	kidney:	n/a
38	chr11:67232403-67232453	PANC-1	pancreas:	n/a
39	chr11:67223174-67223224	HCM	heart:	n/a
40	chr11:67220223-67220273	SK-N-SH_RA	brain:	n/a
41	chr11:67219498-67219548	HUVEC	blood vessel:	n/a
42	chr11:67219241-67219291	MCF10A-Er-Src	breast:	n/a
43	chr11:67224103-67224153	U87	brain:	n/a
44	chr11:67232511-67232561	Caco-2	colon:	n/a
45	chr11:67220043-67220093	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:67219295-67219345	H1-hESC	embryonic stem cell:	embryo
47	chr11:67221264-67221314	AG09309	skin:	n/a
48	chr11:67220223-67220273	HEK293	kidney:	embryo
49	chr11:67229020-67229070	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:67219859-67219909	GM06990	blood:	n/a

(count:67 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:67222200..67224356-chr11:67249381..67251101,2	MCF-7	breast:
2	chr11:67232230..67234303-chr11:67273494..67275304,2	K562	blood:
3	chr11:67231354..67231981-chr5:139487346..139487980,2	Hela-S3	cervix:
4	chr11:67119569..67122629-chr11:67231645..67234377,4	MCF-7	breast:
5	chr11:67225990..67228470-chr11:67230116..67233017,3	K562	blood:
6	chr11:67175949..67181191-chr11:67230601..67234346,6	K562	blood:
7	chr11:67218019..67220766-chr11:67230531..67233882,3	K562	blood:
8	chr11:67121023..67122771-chr11:67229925..67232799,2	K562	blood:
9	chr11:67231198..67233116-chr11:67249356..67252066,3	K562	blood:
10	chr11:67051198..67053837-chr11:67230277..67232997,2	MCF-7	breast:
11	chr11:67201799..67203957-chr11:67229051..67231861,3	K562	blood:
12	chr11:67187592..67190127-chr11:67230614..67234165,3	K562	blood:
13	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
14	chr11:67231400..67232240-chr12:27932856..27933621,2	Hela-S3	cervix:
15	chr11:67194291..67197631-chr11:67229995..67233154,6	K562	blood:
16	chr11:67231740..67232557-chr5:79783790..79784496,2	Hela-S3	cervix:
17	chr11:67218019..67220766-chr11:67230531..67233882,3	K562	blood:
18	chr11:67215208..67219901-chr11:67230573..67236211,5	K562	blood:
19	chr11:67159952..67162907-chr11:67231636..67233328,2	K562	blood:
20	chr11:67231460..67232161-chr16:56965623..56966449,2	Hela-S3	cervix:
21	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
22	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
23	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
24	chr11:67222064..67223632-chr11:67234422..67237101,2	K562	blood:
25	chr11:67221211..67222819-chr11:67229683..67232141,2	K562	blood:
26	chr11:67210748..67211271-chr11:67235396..67236381,2	Hela-S3	cervix:
27	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
28	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
29	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
30	chr11:67231069..67231753-chr20:30192471..30193342,2	Hela-S3	cervix:
31	chr11:67231244..67235869-chr11:67255079..67259378,6	MCF-7	breast:
32	chr11:67167428..67170410-chr11:67219775..67221650,2	MCF-7	breast:
33	chr11:66626403..66628670-chr11:67229720..67232252,2	K562	blood:
34	chr11:67234712..67238016-chr11:67274176..67276331,3	K562	blood:
35	chr11:67229962..67234772-chr11:67234827..67242516,28	K562	blood:
36	chr11:67231016..67231782-chr3:141059446..141059946,2	Hela-S3	cervix:
37	chr11:67215208..67219901-chr11:67230573..67236211,5	K562	blood:
38	chr11:67231914..67232687-chr11:67272887..67273769,2	NB4	blood:
39	chr1:16840048..16841042-chr11:67231498..67232010,2	Hela-S3	cervix:
40	chr11:67157021..67160587-chr11:67222667..67225674,3	MCF-7	breast:
41	chr11:67231368..67232079-chr20:57464161..57464673,2	Hela-S3	cervix:
42	chr11:67229953..67232204-chr6:151995538..151997819,2	MCF-7	breast:
43	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
44	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
45	chr11:67160326..67163213-chr11:67229848..67232719,2	MCF-7	breast:
46	chr11:67156700..67160978-chr11:67234255..67237148,8	MCF-7	breast:
47	chr11:67226396..67229007-chr11:67234982..67237548,2	K562	blood:
48	chr11:67231087..67233865-chr11:67375187..67377797,2	K562	blood:
49	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
50	chr11:67231739..67232585-chr7:6120356..6121094,2	NB4	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR152-1	chr11:67232274-67232579	NONHSAT022431
2	lnc-CABP4-2	chr11:67227339-67227784	ENSG00000269913.1
3	lnc-TMEM134-1	chr11:67229181-67229791	ENSG00000270169.1
4	lnc-CABP4-1	chr11:67220209-67220452	NONHSAT022428
5	lnc-GPR152-1	chr11:67231829-67232132	NONHSAT022431
6	lnc-CABP4-1	chr11:67221032-67221140	NONHSAT022428

No data

Variant related genes	Relation type
ENSG00000270169	TF binding region
CABP4	TF binding region
ENSG00000269913	TF binding region
GPR152	TF binding region
TMEM134	TF binding region
ENSG00000270169	CpG island
CABP4	CpG island
ENSG00000269913	CpG island
GPR152	CpG island
TMEM134	CpG island
ENSG00000167792	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000105176	chromatin interactions
ENSG00000087460	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000051108	chromatin interactions
ENSG00000253024	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000231704	chromatin interactions
ENSG00000175463	chromatin interactions
ENSG00000175634	chromatin interactions
ENSG00000185129	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000175514	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000213402	chromatin interactions
ENSG00000249042	chromatin interactions
ENSG00000270169	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000255949	chromatin interactions
ENSG00000175544	chromatin interactions
ENSG00000152380	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000173599	chromatin interactions
ENSG00000269913	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000173020	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000087448	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000239306	chromatin interactions

Extended variants
information (count: 888 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:888 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12574680	chr11:67217703-67217704	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375175507	chr11:67217715-67217716	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs144958437	chr11:67217718-67217719	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs115798126	chr11:67217813-67217814	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148764476	chr11:67217814-67217815	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs569000030	chr11:67217828-67217829	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573167540	chr11:67217851-67217852	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs545309964	chr11:67217942-67217943	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs540548716	chr11:67218002-67218003	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs79731748	chr11:67218012-67218013	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs188881801	chr11:67218059-67218060	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551450024	chr11:67218074-67218075	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs368647559	chr11:67218101-67218102	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370255553	chr11:67218102-67218103	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548861486	chr11:67218204-67218205	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs949255	chr11:67218266-67218267	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539881700	chr11:67218269-67218270	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115259863	chr11:67218311-67218312	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546944165	chr11:67218354-67218355	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571651603	chr11:67218365-67218366	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142422045	chr11:67218402-67218403	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs949254	chr11:67218464-67218465	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554045939	chr11:67218533-67218534	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs56251213	chr11:67218555-67218556	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs193249354	chr11:67218576-67218577	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112763994	chr11:67218577-67218578	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs536766286	chr11:67218590-67218591	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs554837114	chr11:67218618-67218619	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573131483	chr11:67218635-67218636	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs949253	chr11:67218658-67218659	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558864466	chr11:67218661-67218662	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs72932799	chr11:67218694-67218695	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs556219790	chr11:67218735-67218736	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544629391	chr11:67218771-67218772	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140746371	chr11:67218778-67218779	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs376372547	chr11:67218786-67218787	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs137906019	chr11:67218787-67218788	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs199976078	chr11:67218797-67218798	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs202233102	chr11:67218801-67218802	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551680940	chr11:67218803-67218804	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149449299	chr11:67218808-67218809	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546905508	chr11:67218817-67218818	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs374344639	chr11:67218820-67218821	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571614729	chr11:67218830-67218831	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs145976732	chr11:67218848-67218849	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139855252	chr11:67218869-67218870	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs142993445	chr11:67218875-67218876	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146120927	chr11:67218880-67218881	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs949252	chr11:67218909-67218910	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs142458921	chr11:67218911-67218912	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67211800-67218400	Enhancers	Placenta	Placenta
2	chr11:67211800-67220000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr11:67211800-67231200	Weak transcription	Right Atrium	heart
4	chr11:67211800-67232000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:67212000-67217800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:67212000-67219000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:67212000-67219400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:67212000-67219600	Weak transcription	Pancreas	Pancrea
9	chr11:67212000-67219800	Weak transcription	Esophagus	oesophagus
10	chr11:67212200-67219600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:67212400-67217800	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:67212400-67218200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:67212400-67219400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr11:67212400-67226800	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:67212600-67218200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:67212600-67219800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:67212800-67219600	Weak transcription	Lung	lung
18	chr11:67213000-67220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:67213600-67219800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr11:67213600-67220000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:67213800-67218400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr11:67215200-67217800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:67215400-67218000	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:67215400-67227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:67215800-67218600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:67215800-67230600	Weak transcription	Fetal Intestine Small	intestine
27	chr11:67216000-67217800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:67216000-67219800	Weak transcription	Colonic Mucosa	Colon
29	chr11:67216400-67219600	Weak transcription	HUVEC	blood vessel
30	chr11:67216400-67219800	Enhancers	Primary B cells from cord blood	blood
31	chr11:67216600-67218000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:67216600-67218000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:67216600-67218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:67216600-67218600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:67216600-67219200	Enhancers	Spleen	Spleen
36	chr11:67216600-67219400	Enhancers	Fetal Thymus	thymus
37	chr11:67216800-67217800	Enhancers	Adipose Nuclei	Adipose
38	chr11:67216800-67218000	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:67216800-67219200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:67217000-67217800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr11:67217000-67218000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:67217000-67219400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr11:67217200-67218200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:67217200-67231400	Weak transcription	Thymus	Thymus
45	chr11:67217400-67217800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:67217400-67218800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:67217600-67217800	Enhancers	Brain Substantia Nigra	brain
48	chr11:67217600-67217800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr11:67217600-67218400	Enhancers	Brain Hippocampus Middle	brain
50	chr11:67217800-67218200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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