Variant report

Variant	rs1543901
Chromosome Location	chr2:125189434-125189435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11686659	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs11693506	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs12053037	1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs12618343	0.81[CHB][hapmap]
rs12999580	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs2420852	0.89[CEU][hapmap];0.84[TSI][hapmap]
rs2420865	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs2420868	0.90[CHB][hapmap];0.84[CHD][hapmap];0.80[JPT][hapmap]
rs4848242	0.90[CHB][hapmap]
rs6727886	0.89[CEU][hapmap]
rs6745541	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs7605769	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1014610	chr2:125124983-125350342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv834355	chr2:125128585-125291043	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv834356	chr2:125141494-125315418	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv3350614	chr2:125188282-125190280	Inactive region	Chromatin interactive region	n/a	n/a	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1543901	PROC	cis	parietal	SCAN
rs1543901	GYPC	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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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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