Variant report

Variant	rs74271
Chromosome Location	chr7:80863977-80863978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs172911	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs179174	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs182752	0.83[AMR][1000 genomes]
rs325969	0.83[AFR][1000 genomes]
rs327628	0.83[AMR][1000 genomes]
rs327629	0.83[AMR][1000 genomes]
rs327641	0.83[AMR][1000 genomes]
rs327642	0.83[AMR][1000 genomes]
rs327643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327645	0.83[AMR][1000 genomes]
rs327646	0.83[AMR][1000 genomes]
rs327648	0.83[AMR][1000 genomes]
rs327713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327714	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327721	0.83[AMR][1000 genomes]
rs327722	0.83[AMR][1000 genomes]
rs327740	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475840	0.83[AMR][1000 genomes]
rs475847	0.83[AMR][1000 genomes]
rs59506860	0.83[AMR][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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1029034	chr7:80838012-81137146	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv831045	chr7:80841693-81012404	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv888558	chr7:80844667-80917148	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv607686	chr7:80857196-80917148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80859000-80864600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:80859600-80864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:80859600-80864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:80861400-80865200	Weak transcription	Fetal Lung	lung
5	chr7:80861800-80864200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:80861800-80866400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:80863200-80864800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:80863400-80866000	Weak transcription	Muscle Satellite Cultured Cells	--

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