Variant report

Variant	rs714393
Chromosome Location	chr2:212698718-212698719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10208623	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1025753	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs11677638	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs13006489	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs13400161	0.91[CHB][hapmap];0.97[CHD][hapmap];0.82[ASN][1000 genomes]
rs13407198	0.91[CHB][hapmap];0.95[CHD][hapmap]
rs13426904	0.88[ASN][1000 genomes]
rs13431031	0.84[ASN][1000 genomes]
rs1439246	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs1439247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1439248	0.95[CHB][hapmap];1.00[CHD][hapmap];0.84[ASN][1000 genomes]
rs1561473	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs16847033	1.00[CEU][hapmap]
rs16847063	0.86[CHB][hapmap]
rs7583346	0.95[CHB][hapmap];0.93[CHD][hapmap]
rs7594604	0.95[CHB][hapmap];0.88[ASN][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	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv875784	chr2:212639948-212761152	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875785	chr2:212683946-212752193	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr2:212697800-212699000	Enhancers	Fetal Heart	heart

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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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