Variant report

Variant	rs4719302
Chromosome Location	chr7:12245620-12245621
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	chr7:12245428..12248475-chr7:12248558..12250664,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1019306	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1019307	0.81[JPT][hapmap]
rs1019308	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1020005	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1042949	0.84[CHB][hapmap];0.84[JPT][hapmap]
rs1060700	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs10950391	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs10950395	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11981005	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12667950	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12671250	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13230513	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs1435526	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1435543	0.85[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1468801	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs1468804	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs1548882	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1990622	0.81[JPT][hapmap]
rs2043539	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2098363	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2160269	0.92[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2356063	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3173615	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs3800842	0.85[CEU][hapmap];0.84[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3800844	0.84[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3800845	0.88[CEU][hapmap];0.84[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3807865	0.81[JPT][hapmap]
rs3823612	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs4721055	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4721056	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4721058	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs4721059	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs4721061	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs5011431	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs5011432	0.81[JPT][hapmap]
rs5011433	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5011434	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs5011439	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs6415232	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6460892	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6460895	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6460898	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs6460900	0.84[CHB][hapmap];0.85[JPT][hapmap]
rs6460903	0.88[CEU][hapmap];0.85[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6943125	0.87[EUR][1000 genomes]
rs6947327	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6966915	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs6974465	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7785087	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs7792410	0.84[CHB][hapmap];0.85[JPT][hapmap]

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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1023608	chr7:12064114-12247520	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12240000-12246400	Weak transcription	A549	lung
2	chr7:12244800-12249800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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