Variant report

Variant	rs819438
Chromosome Location	chr7:80223684-80223685
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10215288	0.85[EUR][1000 genomes]
rs10245610	0.85[AFR][1000 genomes];1.00[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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1194198	0.89[EUR][1000 genomes]
rs1194203	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1205467	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1209572	0.89[EUR][1000 genomes]
rs12706918	0.85[EUR][1000 genomes]
rs1334513	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1334514	0.85[EUR][1000 genomes]
rs1334516	0.85[EUR][1000 genomes]
rs1334517	0.85[EUR][1000 genomes]
rs1334518	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1413656	0.82[EUR][1000 genomes]
rs1413657	0.85[EUR][1000 genomes]
rs1413659	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1413662	0.96[EUR][1000 genomes]
rs1524597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1527463	0.85[EUR][1000 genomes]
rs1537592	0.85[EUR][1000 genomes]
rs1572230	0.85[EUR][1000 genomes]
rs1722501	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1722503	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1722504	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1722508	0.89[EUR][1000 genomes]
rs1722509	0.93[AFR][1000 genomes];1.00[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	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1931697	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2366856	0.85[EUR][1000 genomes]
rs2691204	1.00[EUR][1000 genomes]
rs2781844	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2781845	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3211809	0.85[EUR][1000 genomes]
rs3211855	0.85[EUR][1000 genomes]
rs4728191	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]
rs819439	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	0.83[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80212600-80226000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:80218400-80223800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:80219400-80226400	Weak transcription	Fetal Lung	lung
4	chr7:80219400-80229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:80223000-80223800	Enhancers	Stomach Mucosa	stomach
6	chr7:80223200-80224000	Enhancers	Gastric	stomach
7	chr7:80223200-80224000	Enhancers	Pancreas	Pancrea
8	chr7:80223200-80224200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:80223200-80224200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:80223200-80224200	Enhancers	Fetal Heart	heart
11	chr7:80223200-80224200	Enhancers	Left Ventricle	heart
12	chr7:80223200-80224200	Flanking Active TSS	A549	lung
13	chr7:80223200-80225000	Enhancers	Adipose Nuclei	Adipose
14	chr7:80223400-80224000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:80223400-80225200	Weak transcription	HepG2	liver
16	chr7:80223600-80223800	Enhancers	Right Atrium	heart
17	chr7:80223600-80223800	Enhancers	Right Ventricle	heart
18	chr7:80223600-80224000	Enhancers	Fetal Muscle Leg	muscle
19	chr7:80223600-80224000	Enhancers	Psoas Muscle	Psoas
20	chr7:80223600-80224000	Flanking Active TSS	Hela-S3	cervix

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