Variant report

Variant	rs931217
Chromosome Location	chr2:213496450-213496451
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10168850	1.00[JPT][hapmap]
rs10178687	1.00[JPT][hapmap]
rs10180614	1.00[JPT][hapmap]
rs10194811	1.00[JPT][hapmap]
rs11675580	1.00[JPT][hapmap]
rs11676119	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11678993	0.92[ASN][1000 genomes]
rs11679805	0.85[ASN][1000 genomes]
rs11682441	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683491	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11685022	1.00[ASN][1000 genomes]
rs11688167	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693575	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892049	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11894305	1.00[ASN][1000 genomes]
rs11894309	1.00[ASN][1000 genomes]
rs13000533	1.00[ASN][1000 genomes]
rs13015808	1.00[JPT][hapmap]
rs13021394	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13021610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13027061	1.00[ASN][1000 genomes]
rs13410624	0.85[ASN][1000 genomes]
rs1384291	1.00[JPT][hapmap]
rs1505372	1.00[JPT][hapmap]
rs16848550	1.00[JPT][hapmap]
rs16848553	1.00[JPT][hapmap]
rs16848556	1.00[JPT][hapmap]
rs16848564	1.00[JPT][hapmap]
rs16848593	1.00[JPT][hapmap]
rs16848675	1.00[JPT][hapmap]
rs17259208	1.00[JPT][hapmap]
rs17264097	1.00[ASN][1000 genomes]
rs17271707	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17272024	1.00[ASN][1000 genomes]
rs17325821	1.00[JPT][hapmap]
rs17329875	1.00[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17330001	1.00[ASN][1000 genomes]
rs17330768	1.00[ASN][1000 genomes]
rs17331220	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17331702	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2062930	1.00[JPT][hapmap]
rs34071063	1.00[ASN][1000 genomes]
rs34446807	1.00[ASN][1000 genomes]
rs34741122	1.00[ASN][1000 genomes]
rs34804588	1.00[ASN][1000 genomes]
rs35119835	1.00[ASN][1000 genomes]
rs35521899	1.00[ASN][1000 genomes]
rs36042629	1.00[ASN][1000 genomes]
rs36125860	0.92[ASN][1000 genomes]
rs57917865	0.85[ASN][1000 genomes]
rs59370887	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60327012	1.00[ASN][1000 genomes]
rs61521361	0.85[ASN][1000 genomes]
rs62186337	1.00[ASN][1000 genomes]
rs62187960	1.00[ASN][1000 genomes]
rs66535530	1.00[ASN][1000 genomes]
rs6742665	0.92[ASN][1000 genomes]
rs6742793	1.00[ASN][1000 genomes]
rs67447343	0.85[ASN][1000 genomes]
rs6745180	1.00[ASN][1000 genomes]
rs6752299	1.00[JPT][hapmap]
rs71426309	1.00[ASN][1000 genomes]
rs71426310	1.00[ASN][1000 genomes]
rs72933016	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72933064	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72937329	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72937330	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937331	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937333	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937335	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937345	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937365	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72937385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72949011	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72949015	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72949018	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72949040	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73987421	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283525	1.00[JPT][hapmap]
rs931215	1.00[ASN][1000 genomes]
rs931218	1.00[ASN][1000 genomes]
rs956558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
2	nsv875813	chr2:213480637-213509809	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213485400-213504800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:213496400-213496800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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