Variant report

Variant	rs12666914
Chromosome Location	chr7:80111235-80111236
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10216027	0.93[ASN][1000 genomes]
rs10269301	0.93[ASN][1000 genomes]
rs10273230	0.93[ASN][1000 genomes]
rs10276559	0.93[ASN][1000 genomes]
rs10279893	0.89[ASN][1000 genomes]
rs10280109	0.93[ASN][1000 genomes]
rs11769919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535970	0.98[ASN][1000 genomes]
rs12536759	0.93[ASN][1000 genomes]
rs17154074	0.83[ASN][1000 genomes]
rs17154083	0.83[ASN][1000 genomes]
rs17154086	0.83[ASN][1000 genomes]
rs2177617	0.83[ASN][1000 genomes]
rs34193549	0.87[ASN][1000 genomes]
rs59229896	0.83[ASN][1000 genomes]
rs59419187	0.98[ASN][1000 genomes]
rs6467212	0.98[ASN][1000 genomes]
rs6946786	0.83[ASN][1000 genomes]
rs6961082	0.92[EUR][1000 genomes]
rs6970260	0.83[ASN][1000 genomes]
rs73709182	0.93[ASN][1000 genomes]
rs73709192	0.83[ASN][1000 genomes]
rs73709197	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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831042	chr7:79984079-80122312	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv888523	chr7:80088592-80142217	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv607680	chr7:80097576-80142217	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80096800-80113000	Enhancers	Hela-S3	cervix
2	chr7:80107400-80112200	Weak transcription	Right Atrium	heart
3	chr7:80107600-80111600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:80108400-80116200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:80109400-80111600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:80109400-80113000	Enhancers	HMEC	breast
7	chr7:80109600-80113200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:80109600-80113200	Enhancers	NHEK	skin
9	chr7:80109800-80111400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:80109800-80113200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:80109800-80113200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:80110000-80111400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr7:80110000-80111400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:80110200-80111400	Enhancers	Osteobl	bone
15	chr7:80110200-80116800	Weak transcription	Adipose Nuclei	Adipose
16	chr7:80110200-80116800	Weak transcription	Placenta	Placenta
17	chr7:80110400-80116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:80110800-80111800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:80110800-80118400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:80111000-80111600	Weak transcription	Stomach Mucosa	stomach
21	chr7:80111000-80111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:80111200-80116600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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