Variant report

Variant	rs10207595
Chromosome Location	chr2:152094230-152094231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152092689..152095389-chr2:152163780..152166731,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11694240	0.88[EUR][1000 genomes]
rs12622615	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs13383563	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs16829835	0.86[CHB][hapmap]
rs172341	0.92[CEU][hapmap];0.89[CHB][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2113509	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs2161841	0.90[EUR][1000 genomes]
rs289830	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs289831	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs289834	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs289836	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs289837	0.84[CEU][hapmap]
rs289838	0.87[CEU][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs289839	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs289840	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs289866	0.83[EUR][1000 genomes]
rs289882	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs289883	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs289887	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs289890	1.00[CHB][hapmap]
rs289908	0.82[EUR][1000 genomes]
rs289916	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs289917	1.00[CHB][hapmap]
rs394884	0.81[CHB][hapmap]
rs398598	0.83[EUR][1000 genomes]
rs453226	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4665119	1.00[ASN][1000 genomes]
rs4665120	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4665123	0.92[CEU][hapmap]
rs55946491	0.88[EUR][1000 genomes]
rs60381734	0.88[EUR][1000 genomes]
rs6714194	1.00[ASN][1000 genomes]
rs6725961	0.93[CEU][hapmap]
rs6734376	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs6744327	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs6744450	0.90[EUR][1000 genomes]
rs6747930	0.93[CEU][hapmap];0.93[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	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152091600-152095000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:152092600-152095000	Weak transcription	Fetal Lung	lung
3	chr2:152092600-152103000	Weak transcription	Ovary	ovary
4	chr2:152093000-152105200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:152093200-152095400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:152093800-152094400	Enhancers	Adipose Nuclei	Adipose
7	chr2:152093800-152095200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:152093800-152095200	Enhancers	Brain Germinal Matrix	brain
9	chr2:152093800-152095400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:152093800-152095600	Enhancers	HUVEC	blood vessel
11	chr2:152094000-152094400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:152094000-152094400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:152094000-152094400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:152094000-152094400	Enhancers	NH-A	brain
15	chr2:152094000-152095000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:152094000-152095200	Enhancers	Osteobl	bone
17	chr2:152094000-152095400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:152094000-152096000	Enhancers	NHDF-Ad	bronchial
19	chr2:152094200-152094400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:152094200-152094400	Enhancers	Liver	Liver
21	chr2:152094200-152094400	Enhancers	A549	lung
22	chr2:152094200-152094600	Enhancers	NHLF	lung

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