Variant report

Variant	rs12261648
Chromosome Location	chr10:5064317-5064318
allele	G/T
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	NR3C1	chr10:5064087-5064410	A549	lung:	n/a	n/a
2	FOS	chr10:5064108-5064474	MCF10A-Er-Src	breast:	n/a	chr10:5064280-5064291
3	CHD2	chr10:5064280-5064320	Hela-S3	cervix:	n/a	n/a
4	RXRA	chr10:5064157-5064384	HepG2	liver:	n/a	n/a
5	STAT3	chr10:5064119-5064538	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr10:5064175-5064523	Hela-S3	cervix:	n/a	n/a
7	FOS	chr10:5064108-5064536	MCF10A-Er-Src	breast:	n/a	chr10:5064280-5064291
8	CEBPB	chr10:5064109-5064365	Hela-S3	cervix:	n/a	n/a
9	FOS	chr10:5064127-5064379	MCF10A-Er-Src	breast:	n/a	chr10:5064280-5064291
10	STAT3	chr10:5064105-5064484	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr10:5064144-5064448	HUVEC	blood vessel:	n/a	chr10:5064280-5064291
12	SP1	chr10:5063814-5064503	A549	lung:	n/a	n/a
13	MYC	chr10:5064204-5064535	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5049047..5051331-chr10:5062456..5064553,2	MCF-7	breast:

Variant related genes	Relation type
AKR1C2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11592008	0.87[EUR][1000 genomes]
rs17133974	0.88[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs34333145	0.87[EUR][1000 genomes]
rs55936302	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55968144	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58428254	0.87[EUR][1000 genomes]
rs68192167	0.87[EUR][1000 genomes]
rs7076574	0.82[CHB][hapmap]
rs72772109	0.87[EUR][1000 genomes]
rs72772114	0.87[EUR][1000 genomes]
rs72772115	0.87[EUR][1000 genomes]
rs72772181	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv430122	chr10:4986040-5134511	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1039386	chr10:5008383-5348491	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv549884	chr10:5037926-5065248	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1036566	chr10:5037926-5261426	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv549883	chr10:5037926-5275762	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5057200-5066400	Weak transcription	Small Intestine	intestine
2	chr10:5057400-5067200	Weak transcription	Esophagus	oesophagus
3	chr10:5058000-5065800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr10:5059000-5071000	Weak transcription	Aorta	Aorta
5	chr10:5060400-5065800	Enhancers	Hela-S3	cervix
6	chr10:5061400-5064400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:5061600-5064400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:5062200-5067400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr10:5062600-5064400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:5062800-5064400	Weak transcription	HUVEC	blood vessel
11	chr10:5062800-5067800	Weak transcription	Lung	lung
12	chr10:5062800-5067800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:5062800-5068000	Weak transcription	Right Atrium	heart
14	chr10:5063000-5064600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:5063000-5065800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:5063200-5065000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:5063200-5067800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr10:5063400-5064400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:5063400-5064800	Weak transcription	Fetal Intestine Large	intestine
20	chr10:5063400-5065200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr10:5063400-5065200	Weak transcription	Stomach Mucosa	stomach
22	chr10:5063400-5067800	Weak transcription	Pancreas	Pancrea
23	chr10:5063400-5068000	Weak transcription	Left Ventricle	heart
24	chr10:5063800-5065400	Enhancers	NHEK	skin
25	chr10:5063800-5067200	Weak transcription	HepG2	liver
26	chr10:5063800-5068400	Enhancers	Duodenum Mucosa	Duodenum
27	chr10:5064000-5064600	Enhancers	HSMM	muscle
28	chr10:5064000-5064600	Enhancers	Osteobl	bone
29	chr10:5064000-5064800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:5064000-5064800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:5064000-5064800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr10:5064000-5064800	Enhancers	HSMMtube	muscle
33	chr10:5064000-5065000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:5064000-5065400	Enhancers	HMEC	breast
35	chr10:5064200-5064600	Weak transcription	A549	lung
36	chr10:5064200-5064800	Enhancers	NHDF-Ad	bronchial
37	chr10:5064200-5065600	Enhancers	Adipose Nuclei	Adipose
38	chr10:5064200-5065600	Enhancers	Fetal Intestine Small	intestine
39	chr10:5064200-5068600	Enhancers	Rectal Mucosa Donor 31	rectum

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