Variant report

Variant	rs639239
Chromosome Location	chr7:124749389-124749390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1021080	0.84[ASN][1000 genomes]
rs10252579	0.84[ASN][1000 genomes]
rs10252798	0.84[ASN][1000 genomes]
rs1026837	0.85[ASN][1000 genomes]
rs1026839	0.85[ASN][1000 genomes]
rs10274820	0.84[ASN][1000 genomes]
rs1031955	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10500098	0.85[ASN][1000 genomes]
rs10954062	0.84[ASN][1000 genomes]
rs11763920	0.85[ASN][1000 genomes]
rs11767649	0.84[ASN][1000 genomes]
rs11767737	0.84[ASN][1000 genomes]
rs11975363	0.92[ASN][1000 genomes]
rs12534466	0.85[ASN][1000 genomes]
rs13231916	0.85[ASN][1000 genomes]
rs13240043	0.84[ASN][1000 genomes]
rs1351471	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1383749	0.92[ASN][1000 genomes]
rs1383750	0.92[ASN][1000 genomes]
rs1481328	0.84[ASN][1000 genomes]
rs1481329	0.84[ASN][1000 genomes]
rs1481337	0.85[ASN][1000 genomes]
rs1481338	0.92[ASN][1000 genomes]
rs1481339	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1481343	0.85[ASN][1000 genomes]
rs1531715	0.84[ASN][1000 genomes]
rs1531716	0.84[ASN][1000 genomes]
rs1552119	0.84[ASN][1000 genomes]
rs1552120	0.85[ASN][1000 genomes]
rs1600738	0.85[ASN][1000 genomes]
rs1600739	0.85[ASN][1000 genomes]
rs1600740	0.85[ASN][1000 genomes]
rs1871770	0.84[ASN][1000 genomes]
rs2017928	0.84[ASN][1000 genomes]
rs2219953	0.85[ASN][1000 genomes]
rs2402763	0.92[ASN][1000 genomes]
rs28491035	0.82[ASN][1000 genomes]
rs2929320	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2929323	0.92[ASN][1000 genomes]
rs2949802	0.92[ASN][1000 genomes]
rs2968867	0.92[ASN][1000 genomes]
rs34630567	0.84[ASN][1000 genomes]
rs34865746	0.85[ASN][1000 genomes]
rs3900363	0.85[ASN][1000 genomes]
rs3903521	0.85[ASN][1000 genomes]
rs3903522	0.85[ASN][1000 genomes]
rs3903523	0.85[ASN][1000 genomes]
rs4272297	0.85[ASN][1000 genomes]
rs585608	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs589823	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597279	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs606229	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607260	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616697	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs632459	0.87[ASN][1000 genomes]
rs635682	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs635736	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636161	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636721	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs637482	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6466982	0.85[ASN][1000 genomes]
rs6466990	0.87[ASN][1000 genomes]
rs6466993	0.86[ASN][1000 genomes]
rs651869	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659987	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs662165	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs665753	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672965	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs676037	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs683707	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs684345	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685909	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945951	0.85[ASN][1000 genomes]
rs6954614	0.84[ASN][1000 genomes]
rs6964090	0.85[ASN][1000 genomes]
rs719972	0.84[ASN][1000 genomes]
rs7776821	0.85[ASN][1000 genomes]
rs7779594	0.84[ASN][1000 genomes]
rs7788066	0.84[ASN][1000 genomes]
rs7788458	0.84[ASN][1000 genomes]
rs7795934	0.84[ASN][1000 genomes]
rs7802007	0.84[ASN][1000 genomes]
rs7802210	0.84[ASN][1000 genomes]
rs7806548	0.92[ASN][1000 genomes]
rs900047	0.84[ASN][1000 genomes]
rs9691875	0.84[ASN][1000 genomes]
rs9692367	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv464708	chr7:124703756-124805279	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608344	chr7:124703756-124805279	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs639239	RP11-3B12.1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124739800-124776000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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