Variant report

Variant	rs11971593
Chromosome Location	chr7:80682181-80682182
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11972924	1.00[AMR][1000 genomes]
rs11974217	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11977802	1.00[AMR][1000 genomes]
rs11978959	1.00[AMR][1000 genomes]
rs11981533	1.00[AMR][1000 genomes]
rs11981679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28513218	1.00[AMR][1000 genomes]
rs61318613	0.96[AFR][1000 genomes]
rs61393239	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv888551	chr7:80620397-80723062	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80665200-80684400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:80680200-80683400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:80680400-80682600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:80680600-80682400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:80680600-80682400	Weak transcription	NHDF-Ad	bronchial
6	chr7:80680800-80683400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:80681000-80683000	Enhancers	HSMM	muscle
8	chr7:80681200-80682400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:80681600-80683400	Enhancers	A549	lung
10	chr7:80682000-80683400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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