Variant report

Variant	rs2593812
Chromosome Location	chr3:160703069-160703070
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160701391..160703637-chr3:160711563..160713672,2	MCF-7	breast:

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1026572	0.81[CEU][hapmap]
rs1037888	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10513559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10513562	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11708076	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11708813	1.00[CEU][hapmap]
rs11716265	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11922752	1.00[CEU][hapmap]
rs12493960	0.86[ASN][1000 genomes]
rs12639128	1.00[CEU][hapmap]
rs13064176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs13073571	0.90[EUR][1000 genomes]
rs13086250	1.00[CEU][hapmap]
rs13089559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs13092102	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs13097130	0.90[EUR][1000 genomes]
rs13098884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1374793	1.00[CEU][hapmap]
rs1447618	1.00[CEU][hapmap]
rs1447619	1.00[CEU][hapmap]
rs1447620	1.00[CEU][hapmap]
rs1599374	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1599376	0.86[ASN][1000 genomes]
rs1599386	0.93[ASN][1000 genomes]
rs1609688	0.86[ASN][1000 genomes]
rs1610158	0.89[CEU][hapmap]
rs17236725	1.00[CEU][hapmap]
rs17236746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs17826438	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2121718	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2306061	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34168351	0.89[EUR][1000 genomes]
rs4414866	0.86[ASN][1000 genomes]
rs4557202	0.85[CEU][hapmap]
rs4616689	0.93[ASN][1000 genomes]
rs4679662	1.00[CEU][hapmap]
rs4679666	1.00[CEU][hapmap]
rs4679671	0.96[EUR][1000 genomes]
rs4679922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4679924	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4679926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs5004752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55672403	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55888276	0.87[EUR][1000 genomes]
rs61105146	0.86[EUR][1000 genomes]
rs62280303	0.86[EUR][1000 genomes]
rs62280331	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62280333	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6441339	1.00[CEU][hapmap]
rs6441348	0.85[EUR][1000 genomes]
rs6441354	0.84[CEU][hapmap]
rs6764019	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6769642	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6772578	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6774635	0.93[ASN][1000 genomes]
rs6786871	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6799160	0.92[CEU][hapmap];1.00[JPT][hapmap]
rs6804650	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs6806054	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs6809177	1.00[CEU][hapmap]
rs723757	0.85[EUR][1000 genomes]
rs7622047	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7628880	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7632423	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7650703	0.81[ASN][1000 genomes]
rs778642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778645	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778646	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778648	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs778649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778653	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs778654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778657	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs778663	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs796609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs898680	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs898681	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9290065	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9790132	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs980975	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs980976	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9811594	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9820825	0.88[CEU][hapmap]
rs9831488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs9847866	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9848239	0.93[ASN][1000 genomes]
rs9860360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9875200	1.00[CEU][hapmap];0.96[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	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1007004	chr3:160695108-160718154	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160697000-160704000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:160697200-160710600	Weak transcription	Left Ventricle	heart
3	chr3:160701200-160703400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:160701200-160703600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr3:160701200-160704000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:160702600-160703200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr3:160702800-160703400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:160702800-160703800	Weak transcription	Right Atrium	heart

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