Variant report

Variant	rs5000270
Chromosome Location	chr2:213511046-213511047
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168850	1.00[JPT][hapmap]
rs10178687	1.00[JPT][hapmap]
rs10180614	1.00[JPT][hapmap]
rs10194811	1.00[JPT][hapmap]
rs10198723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675580	1.00[JPT][hapmap]
rs11678993	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11679805	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11687307	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892049	1.00[JPT][hapmap]
rs11896992	0.82[EUR][1000 genomes]
rs13015808	1.00[JPT][hapmap]
rs13021394	1.00[JPT][hapmap]
rs13021610	1.00[JPT][hapmap]
rs13386921	0.86[EUR][1000 genomes]
rs13397735	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410624	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1384291	1.00[JPT][hapmap]
rs1505372	1.00[JPT][hapmap]
rs1600883	0.83[EUR][1000 genomes]
rs1600884	0.84[EUR][1000 genomes]
rs16848593	1.00[JPT][hapmap]
rs16848675	1.00[JPT][hapmap]
rs17259208	1.00[JPT][hapmap]
rs17272024	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17325821	1.00[JPT][hapmap]
rs17329875	1.00[JPT][hapmap]
rs2062930	1.00[JPT][hapmap]
rs2220026	0.85[EUR][1000 genomes]
rs4673674	0.84[EUR][1000 genomes]
rs57917865	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58184703	0.84[EUR][1000 genomes]
rs61521361	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62187960	0.84[EUR][1000 genomes]
rs62187963	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62187964	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62187967	0.85[EUR][1000 genomes]
rs62187968	0.85[EUR][1000 genomes]
rs6435715	0.84[EUR][1000 genomes]
rs6742665	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6742793	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6743091	0.86[EUR][1000 genomes]
rs67447343	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6745180	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6750857	0.83[EUR][1000 genomes]
rs6752299	1.00[JPT][hapmap]
rs72937329	0.93[ASN][1000 genomes]
rs7572637	0.86[EUR][1000 genomes]
rs7587236	0.86[EUR][1000 genomes]
rs7590349	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590700	0.86[EUR][1000 genomes]
rs9283525	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213505800-213511200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213505800-213511200	Weak transcription	HMEC	breast
3	chr2:213505800-213511200	Weak transcription	NHEK	skin
4	chr2:213509400-213511600	Weak transcription	Pancreas	Pancrea
5	chr2:213509400-213512200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:213510800-213513600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:213511000-213512000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr2:213511000-213512400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:213511000-213512400	Enhancers	NHLF	lung

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