Variant report

Variant	rs2430025
Chromosome Location	chr7:122265200-122265201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2254981	0.86[ASN][1000 genomes]
rs2402618	0.84[EUR][1000 genomes]
rs2471214	0.81[ASN][1000 genomes]
rs2471215	0.94[ASN][1000 genomes]
rs2471216	0.94[ASN][1000 genomes]
rs3808171	0.95[ASN][1000 genomes]
rs961628	0.85[ASN][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	nsv1017029	chr7:121958574-122338623	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv532178	chr7:122203056-122978846	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv532179	chr7:122249639-122986259	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122217600-122265600	Weak transcription	Aorta	Aorta
2	chr7:122254800-122271400	Weak transcription	Left Ventricle	heart
3	chr7:122257600-122268800	Weak transcription	HepG2	liver
4	chr7:122263000-122265400	Weak transcription	Gastric	stomach
5	chr7:122264600-122268200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:122264600-122268400	Weak transcription	NHDF-Ad	bronchial
7	chr7:122264800-122268400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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