Variant report

Variant	rs7295281
Chromosome Location	chr12:44551398-44551399
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	chr12:44550647..44552515-chr12:44553138..44554864,2	MCF-7	breast:

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10047523	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1032886	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10880622	0.85[ASN][1000 genomes]
rs10880623	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10880628	0.87[ASN][1000 genomes]
rs11182423	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11182430	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11182431	0.87[ASN][1000 genomes]
rs11182432	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11182442	0.87[ASN][1000 genomes]
rs11182443	1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11182449	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11182453	1.00[JPT][hapmap]
rs11182455	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1155808	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11612946	0.90[JPT][hapmap]
rs11615473	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1168078	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11830768	1.00[EUR][1000 genomes]
rs11832219	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11832859	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11833168	1.00[EUR][1000 genomes]
rs11834090	1.00[EUR][1000 genomes]
rs11835507	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11838118	1.00[EUR][1000 genomes]
rs12099982	0.80[ASN][1000 genomes]
rs12297689	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12297754	0.87[ASN][1000 genomes]
rs12297933	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12299030	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12299937	0.87[ASN][1000 genomes]
rs12300793	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12307454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12307560	1.00[JPT][hapmap]
rs12308449	0.84[ASN][1000 genomes]
rs12308569	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12309639	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12319009	0.85[ASN][1000 genomes]
rs1643429	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1643431	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1701088	0.82[ASN][1000 genomes]
rs1701094	0.85[CHB][hapmap]
rs17094072	1.00[EUR][1000 genomes]
rs17094092	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17094136	1.00[EUR][1000 genomes]
rs17094183	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17094194	1.00[EUR][1000 genomes]
rs17094227	0.92[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17094231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs17094235	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17094344	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs17094348	1.00[EUR][1000 genomes]
rs17121310	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2032782	1.00[JPT][hapmap]
rs2062952	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2062953	1.00[EUR][1000 genomes]
rs2062954	0.82[ASN][1000 genomes]
rs2112147	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2174508	0.82[ASN][1000 genomes]
rs2638853	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2638855	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2657576	0.87[ASN][1000 genomes]
rs2657577	0.82[ASN][1000 genomes]
rs56973281	1.00[EUR][1000 genomes]
rs57907832	0.87[ASN][1000 genomes]
rs59118688	0.96[ASN][1000 genomes]
rs59375742	0.87[ASN][1000 genomes]
rs59404283	1.00[EUR][1000 genomes]
rs60400993	1.00[EUR][1000 genomes]
rs60985254	1.00[EUR][1000 genomes]
rs61690882	0.87[ASN][1000 genomes]
rs66970043	0.85[ASN][1000 genomes]
rs67184817	0.87[ASN][1000 genomes]
rs7132031	1.00[EUR][1000 genomes]
rs7137469	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7295832	0.87[ASN][1000 genomes]
rs7297563	0.87[ASN][1000 genomes]
rs7305976	1.00[JPT][hapmap]
rs7306647	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7312930	0.87[ASN][1000 genomes]
rs7313269	0.87[ASN][1000 genomes]
rs7315208	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7316737	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs73272204	1.00[EUR][1000 genomes]
rs73272217	1.00[EUR][1000 genomes]
rs73272267	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73272295	1.00[EUR][1000 genomes]
rs73274135	1.00[EUR][1000 genomes]
rs73288033	1.00[EUR][1000 genomes]
rs73288071	1.00[EUR][1000 genomes]
rs73288083	1.00[EUR][1000 genomes]
rs73290241	1.00[EUR][1000 genomes]
rs73290243	1.00[EUR][1000 genomes]
rs73290244	1.00[EUR][1000 genomes]
rs73290245	1.00[EUR][1000 genomes]
rs73290256	1.00[EUR][1000 genomes]
rs73290257	1.00[EUR][1000 genomes]
rs7961536	1.00[EUR][1000 genomes]
rs7961974	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7961986	1.00[EUR][1000 genomes]
rs7969885	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7976652	0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7977482	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7977539	1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44530800-44573200	Weak transcription	Pancreas	Pancrea
3	chr12:44534800-44573000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44539600-44553800	Weak transcription	Aorta	Aorta
5	chr12:44547000-44554200	Enhancers	Fetal Heart	heart
6	chr12:44547200-44554400	Weak transcription	Left Ventricle	heart
7	chr12:44548200-44551800	Weak transcription	Right Ventricle	heart
8	chr12:44548200-44556600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:44548800-44552800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:44549800-44551800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:44549800-44552600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:44549800-44552600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:44550000-44551800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:44550800-44552000	Enhancers	GM12878-XiMat	blood

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