Variant report

Variant	rs57580643
Chromosome Location	chr7:112196936-112196937
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1014361	0.83[EUR][1000 genomes]
rs10228853	0.83[EUR][1000 genomes]
rs10256673	0.83[EUR][1000 genomes]
rs10267945	0.83[EUR][1000 genomes]
rs10268554	0.83[EUR][1000 genomes]
rs10280084	0.83[EUR][1000 genomes]
rs56842881	0.86[EUR][1000 genomes]
rs56847460	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59696596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73430795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv1801382	chr7:112167436-112205264	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv971209	chr7:112189312-112201673	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112196200-112197000	Enhancers	Primary T cells from cord blood	blood
2	chr7:112196200-112197000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr7:112196400-112197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:112196400-112197000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:112196400-112197000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr7:112196400-112197000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr7:112196400-112197000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:112196400-112197600	Enhancers	Fetal Thymus	thymus
9	chr7:112196600-112197000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:112196600-112197800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:112196800-112197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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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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