Variant report

Variant	rs11574729
Chromosome Location	chr7:80305418-80305419
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11574716	1.00[JPT][hapmap]
rs11574728	1.00[AMR][1000 genomes]
rs11981022	0.95[ASN][1000 genomes]
rs17154258	1.00[JPT][hapmap]
rs17154304	0.98[ASN][1000 genomes]
rs17154309	0.98[ASN][1000 genomes]
rs17154312	0.98[ASN][1000 genomes]
rs17154316	0.98[ASN][1000 genomes]
rs17154320	0.98[ASN][1000 genomes]
rs17154324	0.95[ASN][1000 genomes]
rs17154494	1.00[AMR][1000 genomes]
rs3211890	1.00[CEU][hapmap]
rs3211942	1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs3807073	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3807075	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3807076	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3807077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3817556	0.98[ASN][1000 genomes]
rs57969381	0.98[ASN][1000 genomes]
rs6953487	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs73384976	0.98[ASN][1000 genomes]
rs73384979	0.98[ASN][1000 genomes]
rs73384982	0.98[ASN][1000 genomes]
rs73386811	0.84[ASN][1000 genomes]
rs7810964	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	nsv1026688	chr7:80231657-80307236	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription 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
6	nsv1020745	chr7:80231657-80309495	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv888526	chr7:80240943-80354229	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv888547	chr7:80296054-80311794	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80279000-80306600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:80284600-80309800	Weak transcription	Psoas Muscle	Psoas
3	chr7:80285800-80308200	Weak transcription	Liver	Liver
4	chr7:80288600-80306800	Weak transcription	Lung	lung
5	chr7:80288800-80308200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:80288800-80309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:80289000-80308400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr7:80292000-80307400	Weak transcription	Spleen	Spleen
9	chr7:80294200-80305800	Strong transcription	Adipose Nuclei	Adipose
10	chr7:80296000-80309000	Weak transcription	Fetal Heart	heart
11	chr7:80296400-80315800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:80302200-80306000	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:80302600-80305600	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:80303400-80311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:80304200-80307400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:80304200-80307600	Enhancers	NHEK	skin
17	chr7:80304400-80307600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:80304800-80306000	Strong transcription	Placenta	Placenta
19	chr7:80304800-80308000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:80305000-80306000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:80305000-80306000	Strong transcription	Left Ventricle	heart
22	chr7:80305200-80306000	Strong transcription	Right Ventricle	heart
23	chr7:80305400-80307000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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