Variant report

Variant	rs6467212
Chromosome Location	chr7:80118004-80118005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10216027	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10269301	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10269846	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10270318	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10273230	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10276559	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10279893	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10280109	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11769919	0.98[ASN][1000 genomes]
rs12535970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536759	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666914	0.98[ASN][1000 genomes]
rs1404314	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1404315	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1524600	0.93[EUR][1000 genomes]
rs17154074	0.85[ASN][1000 genomes]
rs17154083	0.85[ASN][1000 genomes]
rs17154086	0.85[ASN][1000 genomes]
rs2177617	0.85[ASN][1000 genomes]
rs34193549	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59229896	0.85[ASN][1000 genomes]
rs59419187	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467217	0.93[EUR][1000 genomes]
rs6946786	0.85[ASN][1000 genomes]
rs6970109	0.93[EUR][1000 genomes]
rs6970260	0.85[ASN][1000 genomes]
rs6979450	0.93[EUR][1000 genomes]
rs73369038	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73369078	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73709182	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73709192	0.85[ASN][1000 genomes]
rs73709197	0.85[ASN][1000 genomes]
rs7777640	0.93[EUR][1000 genomes]
rs7786144	0.93[EUR][1000 genomes]
rs7800673	0.96[EUR][1000 genomes]
rs7804604	0.96[EUR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80110800-80118400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:80113000-80127800	Weak transcription	Hela-S3	cervix
3	chr7:80116200-80118800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:80116600-80118400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:80116600-80118800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:80116600-80119400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:80116800-80118800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:80117000-80118600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:80117200-80118400	Active TSS	Fetal Muscle Leg	muscle
10	chr7:80117200-80118800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:80117200-80118800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:80117200-80119000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:80117400-80119000	Enhancers	NHDF-Ad	bronchial
14	chr7:80117600-80118800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:80117800-80118200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr7:80117800-80118200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:80117800-80118600	Enhancers	Adipose Nuclei	Adipose
18	chr7:80117800-80118600	Enhancers	Fetal Intestine Small	intestine
19	chr7:80117800-80118600	Enhancers	NHEK	skin
20	chr7:80118000-80118600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:80118000-80118800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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