Variant report

Variant	rs4143631
Chromosome Location	chr10:5064494-5064495
allele	C/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	STAT3	chr10:5064119-5064538	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr10:5064175-5064523	Hela-S3	cervix:	n/a	n/a
3	FOS	chr10:5064108-5064536	MCF10A-Er-Src	breast:	n/a	chr10:5064280-5064291
4	SP1	chr10:5063814-5064503	A549	lung:	n/a	n/a
5	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: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10795223	0.82[EUR][1000 genomes]
rs10904392	0.82[MEX][hapmap]
rs10904400	0.80[AMR][1000 genomes]
rs10904402	0.94[CHB][hapmap]
rs11252887	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2398190	0.85[AMR][1000 genomes]
rs4525119	0.90[CHB][hapmap];0.83[CHD][hapmap];0.81[MEX][hapmap]
rs4881379	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4881383	0.82[AMR][1000 genomes]
rs4881394	0.85[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap];0.85[MEX][hapmap]
rs6601893	0.85[AMR][1000 genomes]
rs7074522	0.82[AMR][1000 genomes]
rs7080470	0.95[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.81[ASN][1000 genomes]
rs7088426	0.80[ASN][1000 genomes]
rs7096045	0.94[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7899089	0.95[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7915896	0.81[AMR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4143631	AKR1C2	cis	normal skin	skin_eQTL

Chromatin state (count:42 , 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	chr10:5062200-5067400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr10:5062800-5067800	Weak transcription	Lung	lung
8	chr10:5062800-5067800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:5062800-5068000	Weak transcription	Right Atrium	heart
10	chr10:5063000-5064600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:5063000-5065800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:5063200-5065000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:5063200-5067800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:5063400-5064800	Weak transcription	Fetal Intestine Large	intestine
15	chr10:5063400-5065200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr10:5063400-5065200	Weak transcription	Stomach Mucosa	stomach
17	chr10:5063400-5067800	Weak transcription	Pancreas	Pancrea
18	chr10:5063400-5068000	Weak transcription	Left Ventricle	heart
19	chr10:5063800-5065400	Enhancers	NHEK	skin
20	chr10:5063800-5067200	Weak transcription	HepG2	liver
21	chr10:5063800-5068400	Enhancers	Duodenum Mucosa	Duodenum
22	chr10:5064000-5064600	Enhancers	HSMM	muscle
23	chr10:5064000-5064600	Enhancers	Osteobl	bone
24	chr10:5064000-5064800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:5064000-5064800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:5064000-5064800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr10:5064000-5064800	Enhancers	HSMMtube	muscle
28	chr10:5064000-5065000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:5064000-5065400	Enhancers	HMEC	breast
30	chr10:5064200-5064600	Weak transcription	A549	lung
31	chr10:5064200-5064800	Enhancers	NHDF-Ad	bronchial
32	chr10:5064200-5065600	Enhancers	Adipose Nuclei	Adipose
33	chr10:5064200-5065600	Enhancers	Fetal Intestine Small	intestine
34	chr10:5064200-5068600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr10:5064400-5064600	Enhancers	Colonic Mucosa	Colon
36	chr10:5064400-5064600	Enhancers	HUVEC	blood vessel
37	chr10:5064400-5064800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr10:5064400-5065000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr10:5064400-5065400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr10:5064400-5065400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr10:5064400-5065600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:5064400-5068600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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