Variant report

Variant	rs10070990
Chromosome Location	chr5:112718323-112718324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10037836	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10037845	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10038017	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10040533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10040770	0.94[EUR][1000 genomes]
rs10043512	1.00[ASN][1000 genomes]
rs10044201	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]
rs10051109	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056104	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10058535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10059129	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10070884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10074346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075447	1.00[EUR][1000 genomes]
rs10077020	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10478121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519344	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11953478	1.00[EUR][1000 genomes]
rs11954016	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11954410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11958613	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11958734	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12108831	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13356396	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13361059	1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361060	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362158	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17135568	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17135570	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1882620	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2068922	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28462299	1.00[ASN][1000 genomes]
rs28494592	0.94[EUR][1000 genomes]
rs55794576	1.00[EUR][1000 genomes]
rs56875463	1.00[EUR][1000 genomes]
rs57727389	1.00[ASN][1000 genomes]
rs61560548	1.00[ASN][1000 genomes]
rs6868620	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6871995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6874313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs73779001	0.94[EUR][1000 genomes]
rs73779022	1.00[EUR][1000 genomes]
rs73781511	0.86[ASN][1000 genomes]
rs73781512	1.00[ASN][1000 genomes]
rs73781513	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73781514	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705568	1.00[CEU][hapmap]
rs7718459	1.00[ASN][1000 genomes]
rs7719166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720189	1.00[ASN][1000 genomes]
rs7736171	1.00[ASN][1000 genomes]
rs9285877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326881	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326882	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326883	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9326896	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:112714800-112718600	Enhancers	Dnd41	blood
3	chr5:112715000-112720600	Weak transcription	Aorta	Aorta
4	chr5:112716200-112719400	Enhancers	HMEC	breast
5	chr5:112716400-112719400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:112716400-112719800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:112716800-112720600	Weak transcription	Stomach Mucosa	stomach
8	chr5:112717000-112718400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:112717000-112729400	Weak transcription	Fetal Stomach	stomach
10	chr5:112717200-112718400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:112717200-112718400	Weak transcription	Osteobl	bone
12	chr5:112717400-112719200	Enhancers	NHEK	skin
13	chr5:112717400-112719400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:112718000-112718800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:112718000-112719000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:112718200-112719200	Enhancers	HUVEC	blood vessel
17	chr5:112718200-112719400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:112718200-112720400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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