Variant report

Variant	rs60227422
Chromosome Location	chr7:83792538-83792539
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17158675	0.97[AFR][1000 genomes]
rs17158680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17158685	1.00[EUR][1000 genomes]
rs55923950	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56663012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58382291	1.00[EUR][1000 genomes]
rs58675984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59186128	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs66539631	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6943044	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6966352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6975522	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73177487	0.89[ASN][1000 genomes]
rs73380843	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7786079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7786377	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804558	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7806601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv517852	chr7:83782435-83794756	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888630	chr7:83782839-83809111	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83777000-83803000	Weak transcription	NHLF	lung
3	chr7:83778000-83803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:83785000-83803000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:83787400-83803000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:83787800-83804600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:83791200-83792600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:83792200-83793800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:83792200-83794200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:83792200-83794400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:83792200-83797000	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:83792200-83801600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:83792200-83820600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:83792400-83793800	Weak transcription	Fetal Heart	heart
15	chr7:83792400-83796400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:83792400-83796600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:83792400-83803000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:83792400-83803000	Weak transcription	Fetal Lung	lung
19	chr7:83792400-83803000	Weak transcription	Fetal Stomach	stomach
20	chr7:83792400-83803400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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