Variant report

Variant	rs7594308
Chromosome Location	chr2:205311224-205311225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10205316	0.96[AFR][1000 genomes]
rs12472508	0.83[AFR][1000 genomes]
rs1447491	0.83[AFR][1000 genomes]
rs1447494	0.91[AFR][1000 genomes]
rs1550910	0.80[AFR][1000 genomes]
rs1550911	0.96[AFR][1000 genomes]
rs1992844	0.96[AFR][1000 genomes]
rs2121682	0.96[AFR][1000 genomes]
rs4522588	0.96[AFR][1000 genomes]
rs7575807	0.96[AFR][1000 genomes]
rs921164	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205304000-205314200	Weak transcription	hESC Derived CD56+ Ectoderm 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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