Variant report

Variant	rs481272
Chromosome Location	chr11:62558707-62558708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62556198-62559952	K562	blood:	n/a	n/a
2	POLR2A	chr11:62558516-62558767	ECC-1	luminal epithelium:	n/a	n/a
3	ZNF384	chr11:62558568-62558915	K562	blood:	n/a	n/a
4	SMARCB1	chr11:62558248-62560010	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:62558516-62559886	HCT-116	colon:	n/a	n/a
6	POLR2A	chr11:62557929-62560314	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:62558613-62558765	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:62556002-62560459	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr11:62555834-62560161	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr11:62558235-62560371	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:62558640-62558707	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:62558606-62558717	A549	lung:	n/a	n/a
13	POLR2A	chr11:62558089-62560256	GM12891	blood:	n/a	n/a
14	CEBPB	chr11:62558693-62558881	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr11:62556088-62560419	GM12878	blood:	n/a	n/a
16	PML	chr11:62558512-62559880	K562	blood:	n/a	n/a
17	POLR2A	chr11:62558163-62558799	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:62557888-62560058	GM12891	blood:	n/a	n/a
19	POLR2A	chr11:62558078-62559785	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr11:62558239-62560202	IMR90	lung:	n/a	n/a
21	POLR2A	chr11:62558509-62558757	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr11:62557813-62559643	K562	blood:	n/a	n/a
23	POLR2A	chr11:62558584-62560028	HCT-116	colon:	n/a	n/a
24	HCFC1	chr11:62557607-62560373	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:62553609-62560331	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr11:62558184-62560099	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr11:62557980-62560245	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr11:62558172-62560118	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:62558561-62558723	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr11:62557956-62560248	GM12892	blood:	n/a	n/a
31	POLR2A	chr11:62558409-62560229	U87	brain:	n/a	n/a
32	POLR2A	chr11:62558476-62559749	HL-60	blood:	n/a	n/a
33	POLR2A	chr11:62558273-62560259	K562	blood:	n/a	n/a
34	CEBPB	chr11:62558677-62558828	K562	blood:	n/a	n/a
35	POLR2A	chr11:62557903-62560344	GM12892	blood:	n/a	n/a
36	MXI1	chr11:62558519-62560274	IMR90	lung:	n/a	n/a
37	POLR2A	chr11:62558175-62560235	U87	brain:	n/a	n/a
38	POLR2A	chr11:62558254-62560384	U87	brain:	n/a	n/a
39	POLR2A	chr11:62553660-62560182	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:62557790-62560311	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:62557901-62559982	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:62557753-62560129	MCF-7	breast:	n/a	n/a
43	MTA3	chr11:62558454-62560183	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:62558540-62558749	HepG2	liver:	n/a	n/a
45	POLR2A	chr11:62557309-62560086	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr11:62557818-62560222	K562	blood:	n/a	n/a
47	POLR2A	chr11:62558225-62558816	U87	brain:	n/a	n/a
48	POLR2A	chr11:62558151-62558764	HepG2	liver:	n/a	n/a
49	POLR2A	chr11:62557931-62558849	HL-60	blood:	n/a	n/a
50	PML	chr11:62558387-62559965	GM12878	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62557524..62562234-chr11:62648109..62651861,7	MCF-7	breast:
2	chr11:62552943..62561747-chr11:62616572..62625876,31	K562	blood:
3	chr1:149223443..149226268-chr11:62558578..62560961,2	MCF-7	breast:
4	chr11:62510069..62512152-chr11:62557346..62558937,2	MCF-7	breast:
5	chr11:62472165..62476250-chr11:62556778..62559261,3	MCF-7	breast:
6	chr11:62445382..62446907-chr11:62557703..62559578,2	MCF-7	breast:
7	chr11:62551512..62560180-chr11:62645894..62651775,24	K562	blood:
8	chr11:62493399..62495711-chr11:62557116..62560214,4	K562	blood:
9	chr11:62527671..62530483-chr11:62558571..62560981,2	K562	blood:
10	chr11:62431214..62433526-chr11:62556921..62559343,2	MCF-7	breast:
11	chr11:62494172..62498821-chr11:62557548..62561455,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269176	TF binding region
ENSG00000162194	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000214753	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	0.88[LWK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730033	1.00[AMR][1000 genomes]
rs2956139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs4387351	1.00[TSI][hapmap]
rs482331	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs486451	0.88[LWK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs489275	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4963309	0.88[LWK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs507101	0.94[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	0.94[LWK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560006	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs560603	1.00[AMR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	0.94[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs561520	1.00[AMR][1000 genomes]
rs56226867	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	0.82[ASW][hapmap];0.94[LWK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs572513	0.88[LWK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	1.00[EUR][1000 genomes]
rs575134	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs577071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs592337	0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs595108	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs694678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487819	1.00[AMR][1000 genomes]
rs73487834	1.00[EUR][1000 genomes]
rs73487878	1.00[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv897624	chr11:62549593-62563341	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62556400-62560200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:62557200-62559000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:62557400-62560000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:62557400-62560400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:62557600-62559000	Weak transcription	Aorta	Aorta
6	chr11:62557800-62560200	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr11:62558000-62558800	Enhancers	Stomach Mucosa	stomach
8	chr11:62558000-62558800	Flanking Active TSS	HMEC	breast
9	chr11:62558000-62558800	Transcr. at gene 5' and 3'	NHEK	skin
10	chr11:62558000-62559600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:62558000-62560200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:62558200-62558800	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:62558200-62558800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:62558200-62558800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr11:62558200-62558800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:62558200-62558800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr11:62558200-62558800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr11:62558200-62558800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:62558200-62558800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr11:62558200-62558800	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr11:62558200-62558800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
22	chr11:62558200-62558800	Flanking Active TSS	Fetal Lung	lung
23	chr11:62558200-62558800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr11:62558200-62558800	Flanking Active TSS	HUVEC	blood vessel
25	chr11:62558200-62558800	Flanking Active TSS	NH-A	brain
26	chr11:62558200-62559000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:62558200-62559200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:62558200-62559400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr11:62558200-62559600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:62558200-62559600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:62558200-62559600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:62558200-62559600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr11:62558200-62559600	Transcr. at gene 5' and 3'	Right Atrium	heart
34	chr11:62558200-62560000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:62558200-62560200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
36	chr11:62558200-62560200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
37	chr11:62558400-62558800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr11:62558400-62558800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:62558400-62558800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr11:62558400-62558800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:62558400-62558800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:62558400-62558800	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr11:62558400-62558800	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr11:62558400-62558800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:62558400-62558800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr11:62558400-62558800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr11:62558400-62558800	Enhancers	Esophagus	oesophagus
48	chr11:62558400-62558800	Flanking Active TSS	Right Ventricle	heart
49	chr11:62558400-62558800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr11:62558400-62558800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links