Variant report

Variant	rs819439
Chromosome Location	chr7:80223080-80223081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10215288	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10245610	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1093827	0.96[EUR][1000 genomes]
rs1093828	0.96[EUR][1000 genomes]
rs1093832	0.96[EUR][1000 genomes]
rs1194180	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1194198	0.89[EUR][1000 genomes]
rs1194203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1205467	0.89[EUR][1000 genomes]
rs1209572	0.89[EUR][1000 genomes]
rs12706918	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1334513	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1334514	0.85[EUR][1000 genomes]
rs1334516	0.85[EUR][1000 genomes]
rs1334517	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1334518	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1413656	0.82[EUR][1000 genomes]
rs1413657	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1413659	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1413662	0.96[EUR][1000 genomes]
rs1524597	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1527463	0.85[EUR][1000 genomes]
rs1537592	0.85[EUR][1000 genomes]
rs1572230	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1722501	0.85[EUR][1000 genomes]
rs1722503	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1722504	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1722508	0.89[EUR][1000 genomes]
rs1722509	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1722521	0.96[EUR][1000 genomes]
rs1761644	0.96[EUR][1000 genomes]
rs1761649	0.96[EUR][1000 genomes]
rs1761664	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1931697	0.85[EUR][1000 genomes]
rs2366856	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2691204	1.00[EUR][1000 genomes]
rs2781844	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2781845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3211809	0.85[EUR][1000 genomes]
rs3211855	0.85[EUR][1000 genomes]
rs3211892	1.00[CEU][hapmap]
rs4728191	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4731646	0.85[EUR][1000 genomes]
rs73371041	0.96[EUR][1000 genomes]
rs73371043	0.96[EUR][1000 genomes]
rs73371050	0.96[EUR][1000 genomes]
rs73373037	0.96[EUR][1000 genomes]
rs73376911	0.96[EUR][1000 genomes]
rs73376957	0.89[EUR][1000 genomes]
rs819438	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs819440	1.00[EUR][1000 genomes]
rs819448	0.96[EUR][1000 genomes]
rs819449	0.96[EUR][1000 genomes]
rs819450	0.96[EUR][1000 genomes]
rs819458	0.96[EUR][1000 genomes]
rs867875	0.96[EUR][1000 genomes]
rs867877	0.96[EUR][1000 genomes]
rs945097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs945098	0.96[EUR][1000 genomes]
rs945099	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888525	chr7:80148668-80232471	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1017381	chr7:80187725-80224314	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv525704	chr7:80203718-80236014	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80211000-80223200	Weak transcription	Left Ventricle	heart
2	chr7:80212600-80226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:80213600-80223600	Weak transcription	Psoas Muscle	Psoas
4	chr7:80214800-80223200	Weak transcription	Pancreas	Pancrea
5	chr7:80218400-80223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:80219000-80223200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:80219400-80223200	Weak transcription	Fetal Heart	heart
8	chr7:80219400-80226400	Weak transcription	Fetal Lung	lung
9	chr7:80219400-80229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:80222800-80223600	Enhancers	Placenta	Placenta
11	chr7:80223000-80223200	Enhancers	A549	lung
12	chr7:80223000-80223600	Enhancers	Hela-S3	cervix
13	chr7:80223000-80223800	Enhancers	Stomach Mucosa	stomach

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