Variant report

Variant	rs819449
Chromosome Location	chr7:80179899-80179900
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10215288	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10245610	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1093827	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093828	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1093832	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194180	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1194198	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1194203	0.96[EUR][1000 genomes]
rs1205467	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1209572	0.93[EUR][1000 genomes]
rs12706918	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1334513	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1334514	0.82[EUR][1000 genomes]
rs1334516	0.82[EUR][1000 genomes]
rs1334517	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1334518	0.93[EUR][1000 genomes]
rs1413657	0.82[EUR][1000 genomes]
rs1413659	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1413662	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1524597	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1527463	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1537592	0.82[EUR][1000 genomes]
rs1572230	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17154246	1.00[CEU][hapmap]
rs1722501	0.82[EUR][1000 genomes]
rs1722503	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1722504	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1722508	0.86[EUR][1000 genomes]
rs1722509	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1722521	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1761644	1.00[EUR][1000 genomes]
rs1761649	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1761664	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs1931697	0.82[EUR][1000 genomes]
rs2366856	0.82[EUR][1000 genomes]
rs2691204	0.96[EUR][1000 genomes]
rs2781844	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2781845	0.96[EUR][1000 genomes]
rs3211809	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3211855	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs3211892	1.00[CEU][hapmap]
rs3211905	1.00[CEU][hapmap]
rs3211909	1.00[CEU][hapmap]
rs3211912	1.00[CEU][hapmap]
rs3211913	1.00[CEU][hapmap]
rs4728191	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4731646	0.82[EUR][1000 genomes]
rs73371041	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371043	1.00[EUR][1000 genomes]
rs73371050	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73373037	1.00[EUR][1000 genomes]
rs73376911	1.00[EUR][1000 genomes]
rs73376957	0.86[EUR][1000 genomes]
rs819438	0.96[EUR][1000 genomes]
rs819439	0.96[EUR][1000 genomes]
rs819440	0.96[EUR][1000 genomes]
rs819448	1.00[EUR][1000 genomes]
rs819450	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs819458	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs867875	1.00[EUR][1000 genomes]
rs867877	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs945097	0.96[EUR][1000 genomes]
rs945098	1.00[EUR][1000 genomes]
rs945099	1.00[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	nsv1030961	chr7:80032525-80197468	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv538991	chr7:80032525-80197468	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv949205	chr7:80039695-80211200	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80168000-80181800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80177200-80180600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:80177400-80182000	Enhancers	Adipose Nuclei	Adipose
4	chr7:80177600-80183000	Weak transcription	Right Ventricle	heart
5	chr7:80178600-80180000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:80178800-80181000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:80178800-80181400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:80178800-80181400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:80178800-80181400	Weak transcription	NHLF	lung
10	chr7:80179000-80180000	Weak transcription	Hela-S3	cervix
11	chr7:80179000-80181400	Weak transcription	Osteobl	bone
12	chr7:80179200-80181200	Weak transcription	NHDF-Ad	bronchial
13	chr7:80179200-80181400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:80179200-80181400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:80179800-80180200	Enhancers	Spleen	Spleen

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