Variant report

Variant	rs1946552
Chromosome Location	chr2:125142722-125142723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1946553	0.90[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap]
rs2565761	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2565762	0.81[CEU][hapmap]
rs720477	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs779981	0.86[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap]
rs779999	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs780045	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs780046	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs780057	0.91[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs780059	0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs780060	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[LWK][hapmap];0.90[YRI][hapmap]
rs796641	0.82[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874989	chr2:124892592-125176030	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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
3	nsv834355	chr2:125128585-125291043	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv518449	chr2:125135589-125142722	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
5	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1946552	GLI2	cis	parietal	SCAN

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

No data

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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