Variant report

Variant	esv3409664
Chromosome Location	chr11:67235401-67238149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:729)
CpG islands
(count:915)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:67236768-67236994	HepG2	liver:	n/a	n/a
2	ATF1	chr11:67236727-67237029	K562	blood:	n/a	n/a
3	ATF2	chr11:67236557-67237095	GM12878	blood:	n/a	chr11:67236875-67236886
4	ATF2	chr11:67236659-67237089	H1-hESC	embryonic stem cell:	n/a	chr11:67236875-67236886
5	ATF2	chr11:67237756-67238152	GM12878	blood:	n/a	n/a
6	ATF3	chr11:67236582-67237043	K562	blood:	n/a	chr11:67236867-67236876 chr11:67236865-67236885 chr11:67236874-67236884
7	BACH1	chr11:67236756-67237141	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr11:67237735-67238099	GM12878	blood:	n/a	n/a
9	BCL11A	chr11:67237841-67238147	GM12878	blood:	n/a	n/a
10	BCL3	chr11:67236615-67237184	A549	lung:	n/a	n/a
11	BCL3	chr11:67236446-67237084	GM12878	blood:	n/a	n/a
12	BCL3	chr11:67236407-67237105	A549	lung:	n/a	n/a
13	BCLAF1	chr11:67236398-67237078	GM12878	blood:	n/a	n/a
14	BCLAF1	chr11:67236649-67237073	GM12878	blood:	n/a	n/a
15	BHLHE40	chr11:67236711-67237113	K562	blood:	n/a	n/a
16	BHLHE40	chr11:67236641-67237141	GM12878	blood:	n/a	n/a
17	BHLHE40	chr11:67236622-67237101	HepG2	liver:	n/a	n/a
18	BRCA1	chr11:67236722-67237159	GM12878	blood:	n/a	n/a
19	BRCA1	chr11:67236527-67237012	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:67236750-67236975	H1-hESC	embryonic stem cell:	n/a	n/a
21	CBX3	chr11:67236485-67237067	K562	blood:	n/a	n/a
22	CCNT2	chr11:67236265-67237077	K562	blood:	n/a	n/a
23	CEBPB	chr11:67236814-67236983	K562	blood:	n/a	n/a
24	CEBPB	chr11:67236765-67236952	HepG2	liver:	n/a	n/a
25	CEBPB	chr11:67238109-67238181	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:67236889-67237008	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr11:67236745-67237287	GM12878	blood:	n/a	n/a
28	CEBPB	chr11:67236686-67237088	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr11:67236527-67236873	HepG2	liver:	n/a	n/a
30	CHD1	chr11:67236912-67236981	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr11:67236449-67237125	GM12878	blood:	n/a	n/a
32	CHD2	chr11:67236563-67236603	K562	blood:	n/a	n/a
33	CHD2	chr11:67235705-67237091	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr11:67236484-67237060	GM12878	blood:	n/a	n/a
35	CHD2	chr11:67236764-67237027	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr11:67236886-67237055	K562	blood:	n/a	n/a
37	CHD2	chr11:67236710-67236935	HepG2	liver:	n/a	n/a
38	CREB1	chr11:67236500-67237127	K562	blood:	n/a	n/a
39	CREB1	chr11:67236574-67237220	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr11:67236177-67237118	GM12878	blood:	n/a	n/a
41	CREB1	chr11:67236726-67237131	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr11:67236071-67237224	HepG2	liver:	n/a	n/a
43	CREB1	chr11:67236657-67236999	A549	lung:	n/a	n/a
44	CREB1	chr11:67236439-67237141	H1-hESC	embryonic stem cell:	n/a	n/a
45	CREB1	chr11:67236376-67237165	HepG2	liver:	n/a	n/a
46	CREB1	chr11:67236296-67237128	A549	lung:	n/a	n/a
47	CTCF	chr11:67236860-67237010	HepG2	liver:	n/a	n/a
48	CTCF	chr11:67236800-67236950	HEK293	kidney:	n/a	n/a
49	CTCF	chr11:67236780-67236930	GM12878	blood:	n/a	n/a
50	CTCF	chr11:67236840-67236990	HPF	lung:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67236722-67236772	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:67237123-67237173	HCF	heart:	n/a
3	chr11:67236866-67236916	AG04449	skin:	fetal
4	chr11:67236227-67236277	NHDF-neo	bronchial:	n/a
5	chr11:67236733-67236783	NT2-D1	testis:	n/a
6	chr11:67236227-67236277	U87	brain:	n/a
7	chr11:67237618-67237668	AG09319	gingival:	n/a
8	chr11:67236756-67236806	HCM	heart:	n/a
9	chr11:67236756-67236806	ECC-1	luminal epithelium:	n/a
10	chr11:67236870-67236920	MCF10A-Er-Src	breast:	n/a
11	chr11:67236413-67236463	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:67236265-67236315	RPTEC	kidney:	n/a
13	chr11:67236413-67236463	ECC-1	luminal epithelium:	n/a
14	chr11:67237618-67237668	ECC-1	luminal epithelium:	n/a
15	chr11:67236739-67236789	HPAEpiC	pulmonary alveolar:	n/a
16	chr11:67237123-67237173	PFSK-1	brain:	n/a
17	chr11:67236733-67236783	HRE	kidney:	n/a
18	chr11:67236739-67236789	HRPEpiC	eye:	n/a
19	chr11:67236870-67236920	HAEpiC	amniotic membrane:	n/a
20	chr11:67236739-67236789	HMEC	breast:	n/a
21	chr11:67236733-67236783	HRCEpiC	kidney:	n/a
22	chr11:67236870-67236920	SKMC	muscle:	n/a
23	chr11:67236870-67236920	AG04449	skin:	fetal
24	chr11:67236413-67236463	ovcar-3	ovarian:	n/a
25	chr11:67236952-67237002	NT2-D1	testis:	n/a
26	chr11:67236603-67236653	MCF10A-Er-Src	breast:	n/a
27	chr11:67237618-67237668	HIPEpiC	eye:	n/a
28	chr11:67236756-67236806	BE2_C	brain:	n/a
29	chr11:67236733-67236783	PANC-1	pancreas:	n/a
30	chr11:67236265-67236315	GM19239	blood:	n/a
31	chr11:67236756-67236806	SK-N-SH_RA	brain:	n/a
32	chr11:67237123-67237173	CMK	blood:	n/a
33	chr11:67236952-67237002	HCPEpiC	choroid plexus:	n/a
34	chr11:67237618-67237668	AoSMC	blood vessel:	n/a
35	chr11:67236413-67236463	Jurkat	blood:	n/a
36	chr11:67236866-67236916	PFSK-1	brain:	n/a
37	chr11:67236952-67237002	AoSMC	blood vessel:	n/a
38	chr11:67236603-67236653	PrEC	prostate:	n/a
39	chr11:67236780-67236830	GM06990	blood:	n/a
40	chr11:67236739-67236789	H1-hESC	embryonic stem cell:	embryo
41	chr11:67236952-67237002	AG09319	gingival:	n/a
42	chr11:67236866-67236916	SAEC	small airway:	n/a
43	chr11:67236733-67236783	A549	lung:	n/a
44	chr11:67236722-67236772	ECC-1	luminal epithelium:	n/a
45	chr11:67236866-67236916	IMR90	lung:	fetal
46	chr11:67237618-67237668	HCPEpiC	choroid plexus:	n/a
47	chr11:67236733-67236783	T-47D	breast:	n/a
48	chr11:67236722-67236772	HNPCEpiC	eye:	n/a
49	chr11:67236413-67236463	HCT-116	colon:	n/a
50	chr11:67237179-67237229	HMEC	breast:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67236168..67237066-chr3:15247366..15248113,2	NB4	blood:
2	chr11:67168054..67171427-chr11:67236833..67240975,3	K562	blood:
3	chr11:67137032..67142528-chr11:67234580..67238729,6	MCF-7	breast:
4	chr11:67234712..67238016-chr11:67274176..67276331,3	K562	blood:
5	chr11:67232230..67238185-chr11:67272105..67277120,9	K562	blood:
6	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
7	chr11:67209008..67211224-chr11:67237237..67239744,2	K562	blood:
8	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
9	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
10	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
11	chr11:67231244..67235869-chr11:67255079..67259378,6	MCF-7	breast:
12	chr11:67235818..67238402-chr16:4895547..4898294,2	MCF-7	breast:
13	chr11:67236493..67237039-chr17:76164560..76165132,2	Hela-S3	cervix:
14	chr11:67237234..67237734-chr19:17325931..17326755,2	Hela-S3	cervix:
15	chr11:67201248..67204152-chr11:67232413..67236121,3	K562	blood:
16	chr11:67156700..67160978-chr11:67234255..67237148,8	MCF-7	breast:
17	chr11:67236278..67236845-chr4:54930348..54931166,2	Hela-S3	cervix:
18	chr11:67206674..67207733-chr11:67236442..67237096,3	MCF-7	breast:
19	chr11:67236379..67237298-chr17:39844986..39845574,2	Hela-S3	cervix:
20	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
21	chr11:67222064..67223632-chr11:67234422..67237101,2	K562	blood:
22	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
23	chr11:67226396..67229007-chr11:67234982..67237548,2	K562	blood:
24	chr11:65657743..65658556-chr11:67236340..67237166,2	Hela-S3	cervix:
25	chr11:67069155..67071597-chr11:67234852..67239277,5	MCF-7	breast:
26	chr11:67210748..67211271-chr11:67235396..67236381,2	Hela-S3	cervix:
27	chr11:67236931..67239877-chr11:67267482..67269988,2	K562	blood:
28	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
29	chr11:67215208..67219901-chr11:67230573..67236211,5	K562	blood:
30	chr11:67200052..67201775-chr11:67236334..67238070,2	K562	blood:
31	chr11:67236456..67237113-chr11:67273312..67274146,3	MCF-7	breast:
32	chr11:67236562..67239497-chr8:145633636..145636421,2	MCF-7	breast:
33	chr11:67229962..67234772-chr11:67234827..67242516,28	K562	blood:
34	chr10:103577409..103577951-chr11:67236206..67236788,2	Hela-S3	cervix:
35	chr11:67234460..67237754-chr11:67271882..67275850,7	MCF-7	breast:
36	chr11:67175789..67179239-chr11:67234277..67236634,3	MCF-7	breast:
37	chr11:67236926..67239757-chr11:67244854..67246808,3	K562	blood:
38	chr11:66383175..66385697-chr11:67233661..67236166,2	MCF-7	breast:
39	chr11:67168934..67169507-chr11:67236427..67237207,3	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM134	TF binding region
TMEM134	CpG island
ENSG00000173812	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000172830	chromatin interactions
ENSG00000172613	chromatin interactions
ENSG00000140632	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000230524	chromatin interactions
ENSG00000110697	chromatin interactions
ENSG00000255949	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000269913	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000175463	chromatin interactions
ENSG00000175634	chromatin interactions
ENSG00000198408	chromatin interactions
ENSG00000272115	chromatin interactions
ENSG00000118900	chromatin interactions
ENSG00000172508	chromatin interactions
ENSG00000172663	chromatin interactions
ENSG00000071894	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000175602	chromatin interactions
ENSG00000131375	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000108639	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000167797	chromatin interactions
ENSG00000110711	chromatin interactions
ENSG00000175544	chromatin interactions
ENSG00000109220	chromatin interactions
ENSG00000172725	chromatin interactions

Extended variants
information (count: 88 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148265102	chr11:67235410-67235411	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
2	rs567188798	chr11:67235423-67235424	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
3	rs534710351	chr11:67235439-67235440	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
4	rs369364289	chr11:67235480-67235481	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
5	rs372848592	chr11:67235498-67235499	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
6	rs140105311	chr11:67235502-67235503	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs577820760	chr11:67235506-67235507	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
8	rs141783583	chr11:67235519-67235520	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
9	rs145196976	chr11:67235533-67235534	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
10	rs111720396	chr11:67235538-67235539	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
11	rs575477178	chr11:67235543-67235544	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
12	rs542593433	chr11:67235648-67235649	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
13	rs1638576	chr11:67235699-67235700	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188177835	chr11:67235700-67235701	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs540236755	chr11:67235707-67235708	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs376921789	chr11:67235803-67235804	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs111660959	chr11:67235807-67235808	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs372975016	chr11:67235809-67235810	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs1638577	chr11:67235815-67235816	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528934036	chr11:67235885-67235886	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
21	rs569384341	chr11:67236029-67236030	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
22	rs529564193	chr11:67236111-67236112	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
23	rs569454603	chr11:67236127-67236128	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs370227164	chr11:67236246-67236247	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
25	rs112914114	chr11:67236271-67236272	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
26	rs548645402	chr11:67236277-67236278	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
27	rs567153977	chr11:67236288-67236289	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
28	rs376881325	chr11:67236290-67236291	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
29	rs546632150	chr11:67236293-67236294	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
30	rs571339619	chr11:67236299-67236300	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
31	rs373419851	chr11:67236468-67236469	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs112612281	chr11:67236475-67236476	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs536844031	chr11:67236476-67236477	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs557106778	chr11:67236519-67236520	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
35	rs575393010	chr11:67236630-67236631	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
36	rs536544835	chr11:67236657-67236658	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
37	rs554520975	chr11:67236660-67236661	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
38	rs573103630	chr11:67236670-67236671	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs540202054	chr11:67236675-67236676	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
40	rs564964761	chr11:67236676-67236677	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
41	rs3741167	chr11:67236709-67236710	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs576911069	chr11:67236733-67236734	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs182185805	chr11:67236747-67236748	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
44	rs571681761	chr11:67236757-67236758	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs563093911	chr11:67236800-67236801	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
46	rs530184631	chr11:67236813-67236814	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
47	rs548771060	chr11:67236819-67236820	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs570375597	chr11:67236847-67236848	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
49	rs528016032	chr11:67236864-67236865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
50	rs546599357	chr11:67236866-67236867	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67232600-67235600	Weak transcription	Ovary	ovary
2	chr11:67232800-67235800	Weak transcription	Aorta	Aorta
3	chr11:67233000-67235600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:67233000-67235600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:67233000-67235600	Weak transcription	Left Ventricle	heart
6	chr11:67233000-67235600	Weak transcription	HUVEC	blood vessel
7	chr11:67233000-67235800	Weak transcription	Fetal Kidney	kidney
8	chr11:67233200-67235600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:67233200-67235600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:67233200-67235600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:67233200-67235600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:67233200-67235600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr11:67233200-67235600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr11:67233200-67235600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:67233200-67235600	Weak transcription	K562	blood
16	chr11:67233200-67235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:67233200-67235800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:67233400-67235600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr11:67233800-67235600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:67233800-67236000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:67234000-67236000	Enhancers	Spleen	Spleen
22	chr11:67234000-67236600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:67234200-67235800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr11:67234200-67235800	Enhancers	Fetal Lung	lung
25	chr11:67234200-67237200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:67234400-67235800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:67234400-67236400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:67234600-67235600	Enhancers	Primary B cells from peripheral blood	blood
29	chr11:67234600-67235600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr11:67234600-67235600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:67234800-67235600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr11:67234800-67235600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr11:67234800-67235600	Enhancers	Colon Smooth Muscle	Colon
34	chr11:67234800-67235600	Enhancers	Fetal Muscle Trunk	muscle
35	chr11:67234800-67235600	Enhancers	Fetal Muscle Leg	muscle
36	chr11:67234800-67235600	Flanking Active TSS	Pancreas	Pancrea
37	chr11:67234800-67235800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:67234800-67235800	Flanking Active TSS	HepG2	liver
39	chr11:67234800-67236000	Enhancers	Fetal Brain Male	brain
40	chr11:67234800-67236000	Enhancers	Lung	lung
41	chr11:67234800-67236200	Flanking Active TSS	Dnd41	blood
42	chr11:67235000-67235600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:67235000-67235600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:67235000-67235600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr11:67235000-67235600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:67235000-67235600	Enhancers	Adipose Nuclei	Adipose
47	chr11:67235000-67235600	Enhancers	Fetal Thymus	thymus
48	chr11:67235000-67235800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:67235000-67235800	Enhancers	Brain Substantia Nigra	brain
50	chr11:67235000-67235800	Flanking Active TSS	Esophagus	oesophagus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links