Variant report

Variant	rs12249281
Chromosome Location	chr10:5075493-5075494
allele	A/G
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	STAT3	chr10:5075491-5076099	Hela-S3	cervix:	n/a	chr10:5075719-5075728 chr10:5075718-5075727
2	JUND	chr10:5075365-5075985	Hela-S3	cervix:	n/a	chr10:5075722-5075734 chr10:5075717-5075728 chr10:5075719-5075727 chr10:5075719-5075728 chr10:5075717-5075729 chr10:5075718-5075727 chr10:5075693-5075704 chr10:5075720-5075727 chr10:5075718-5075728
3	GATA3	chr10:5075315-5076142	A549	lung:	n/a	n/a
4	CEBPB	chr10:5075471-5076090	A549	lung:	n/a	chr10:5075770-5075783
5	EP300	chr10:5075402-5075937	A549	lung:	n/a	chr10:5075719-5075728 chr10:5075718-5075727
6	SP1	chr10:5075426-5075892	A549	lung:	n/a	n/a
7	JUN	chr10:5075451-5075930	Hela-S3	cervix:	n/a	chr10:5075722-5075734 chr10:5075719-5075727 chr10:5075719-5075728 chr10:5075717-5075729 chr10:5075718-5075727 chr10:5075720-5075727 chr10:5075718-5075728
8	CEBPB	chr10:5075395-5076040	Hela-S3	cervix:	n/a	chr10:5075770-5075783
9	SP1	chr10:5075460-5075945	A549	lung:	n/a	n/a
10	FOS	chr10:5075447-5076046	MCF10A-Er-Src	breast:	n/a	chr10:5075722-5075734 chr10:5075719-5075727 chr10:5075719-5075728 chr10:5075717-5075728 chr10:5075717-5075729 chr10:5075718-5075727 chr10:5075720-5075727 chr10:5075718-5075728
11	FOSL2	chr10:5075402-5076080	A549	lung:	n/a	chr10:5075722-5075734 chr10:5075719-5075727 chr10:5075719-5075728 chr10:5075717-5075729 chr10:5075718-5075727 chr10:5075720-5075727 chr10:5075718-5075728
12	FOS	chr10:5075446-5076047	MCF10A-Er-Src	breast:	n/a	chr10:5075722-5075734 chr10:5075719-5075727 chr10:5075719-5075728 chr10:5075717-5075728 chr10:5075717-5075729 chr10:5075718-5075727 chr10:5075720-5075727 chr10:5075718-5075728
13	EP300	chr10:5075425-5075966	A549	lung:	n/a	chr10:5075719-5075728 chr10:5075718-5075727

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5067000..5068647-chr10:5074072..5076812,2	MCF-7	breast:
2	chr10:5074304..5076231-chr10:5473842..5475799,2	K562	blood:

Variant related genes	Relation type
AKR1C3	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10400188	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10736995	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10736996	0.88[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.98[GIH][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10795237	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10795238	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10795240	0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10904392	0.81[YRI][hapmap]
rs10904401	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11252894	0.84[JPT][hapmap]
rs12411321	0.86[JPT][hapmap]
rs12766479	0.81[YRI][hapmap]
rs1937838	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1937881	0.86[JPT][hapmap]
rs1937896	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1937897	0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2096421	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2105451	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2211628	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2263348	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801899	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2801901	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801904	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801905	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801911	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801913	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801914	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801916	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2801917	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2801920	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4242784	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4255442	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4551664	0.81[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4881381	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5016523	0.83[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap]
rs57018498	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6601895	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7068555	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070192	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7081787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081949	0.87[AFR][1000 genomes]
rs7089756	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7100778	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7897300	0.82[AFR][1000 genomes]
rs7897448	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7898816	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7900708	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7904013	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7907397	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7911668	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7913122	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7921957	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9702133	0.90[AMR][1000 genomes];0.90[ASN][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	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
17	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
18	nsv831773	chr10:5069805-5109716	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5068000-5076800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:5073400-5076000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:5074000-5078800	Weak transcription	Stomach Mucosa	stomach
4	chr10:5074800-5076600	Enhancers	Hela-S3	cervix
5	chr10:5075000-5076000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr10:5075000-5076200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:5075000-5076200	Enhancers	NHDF-Ad	bronchial
8	chr10:5075000-5076400	Enhancers	HMEC	breast
9	chr10:5075000-5076800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr10:5075000-5076800	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:5075200-5075600	ZNF genes & repeats	K562	blood
12	chr10:5075200-5075600	Enhancers	NHLF	lung
13	chr10:5075200-5075600	Flanking Active TSS	Osteobl	bone
14	chr10:5075200-5076200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:5075200-5076200	Enhancers	NHEK	skin
16	chr10:5075200-5076600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:5075200-5076600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:5075200-5076600	Enhancers	NH-A	brain
19	chr10:5075200-5077000	ZNF genes & repeats	Adipose Nuclei	Adipose
20	chr10:5075400-5075800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:5075400-5076200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:5075400-5076200	Enhancers	HSMM	muscle
23	chr10:5075400-5076200	Enhancers	HUVEC	blood vessel

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