Variant report

Variant	rs7563920
Chromosome Location	chr2:76996080-76996081
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10186864	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11126561	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12713882	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs12713883	0.82[CHB][hapmap]
rs13014978	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.84[EUR][1000 genomes]
rs13030721	0.83[CHB][hapmap]
rs1400848	0.95[CEU][hapmap];0.85[MEX][hapmap];0.85[AMR][1000 genomes]
rs1400849	0.95[CEU][hapmap];0.83[AMR][1000 genomes]
rs1517778	0.94[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1517779	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1517780	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1581254	0.83[CHB][hapmap]
rs2222178	0.95[CEU][hapmap];0.83[AMR][1000 genomes]
rs2222179	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2222180	1.00[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4564799	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.85[MEX][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6718624	0.83[CHB][hapmap]
rs6730015	1.00[CEU][hapmap];0.91[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	nsv582235	chr2:76881210-76997763	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv874320	chr2:76971709-77013724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
3	nsv1011401	chr2:76982546-77068714	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv999822	chr2:76994539-77022762	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7563920	TTC31	cis	parietal	SCAN
rs7563920	MRPL19	cis	cerebellum	SCAN
rs7563920	ACTG2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76988000-76998400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76994600-76998000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:76996000-76996600	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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