Variant report

Variant	rs7487081
Chromosome Location	chr12:117344276-117344277
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr12:117344160-117344366	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117343212..117346799-chr12:117346816..117349796,3	MCF-7	breast:

Variant related genes	Relation type
FBXW8	TF binding region
ENSG00000240100	TF binding region
ENSG00000174989	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10507277	1.00[JPT][hapmap]
rs10732611	1.00[JPT][hapmap]
rs10735099	1.00[JPT][hapmap]
rs10735100	0.83[CEU][hapmap]
rs10735102	0.86[JPT][hapmap]
rs10735103	0.92[JPT][hapmap]
rs10774891	1.00[JPT][hapmap]
rs10774892	1.00[JPT][hapmap]
rs10774896	1.00[JPT][hapmap]
rs10774898	0.83[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs10850731	0.85[JPT][hapmap]
rs10850734	0.83[CEU][hapmap]
rs10850743	0.86[JPT][hapmap]
rs10850744	0.84[JPT][hapmap]
rs11068247	0.84[JPT][hapmap]
rs11068258	0.84[JPT][hapmap]
rs11068262	0.84[JPT][hapmap]
rs11068264	0.86[JPT][hapmap]
rs11068277	0.86[JPT][hapmap]
rs11068280	0.91[JPT][hapmap]
rs11068282	0.84[JPT][hapmap]
rs11068286	0.83[JPT][hapmap]
rs11068296	1.00[JPT][hapmap]
rs17583145	0.82[JPT][hapmap]
rs17616662	0.84[JPT][hapmap]
rs2242469	1.00[JPT][hapmap]
rs2291916	0.83[CEU][hapmap];0.86[TSI][hapmap]
rs2393111	1.00[JPT][hapmap]
rs2393113	0.83[CEU][hapmap]
rs35833140	0.83[ASN][1000 genomes]
rs3803089	0.84[JPT][hapmap]
rs3893370	0.86[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4074147	1.00[JPT][hapmap]
rs4076700	1.00[JPT][hapmap]
rs4077519	1.00[JPT][hapmap]
rs4130296	1.00[JPT][hapmap]
rs4324001	0.84[ASN][1000 genomes]
rs4347476	0.84[JPT][hapmap]
rs4522274	1.00[JPT][hapmap]
rs4542506	1.00[JPT][hapmap]
rs4562925	1.00[JPT][hapmap]
rs4562927	0.86[JPT][hapmap]
rs4766815	1.00[JPT][hapmap]
rs4766816	0.83[CEU][hapmap]
rs4766820	1.00[JPT][hapmap]
rs4766821	0.92[JPT][hapmap]
rs4766822	0.86[JPT][hapmap]
rs4766823	0.83[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs4767474	1.00[JPT][hapmap]
rs4767476	1.00[JPT][hapmap]
rs4767477	0.83[CEU][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap]
rs4767478	1.00[JPT][hapmap]
rs4767482	0.92[JPT][hapmap]
rs4767483	1.00[JPT][hapmap]
rs4767484	1.00[JPT][hapmap]
rs4767488	0.92[JPT][hapmap]
rs4767489	1.00[JPT][hapmap]
rs4767491	1.00[JPT][hapmap]
rs4767493	1.00[JPT][hapmap]
rs6490097	0.83[ASN][1000 genomes]
rs6490102	1.00[JPT][hapmap]
rs6490103	0.82[CEU][hapmap]
rs7131746	1.00[JPT][hapmap]
rs7133066	1.00[JPT][hapmap]
rs7133090	0.83[CEU][hapmap];0.88[MEX][hapmap];0.85[TSI][hapmap]
rs7136629	0.84[JPT][hapmap]
rs7137006	1.00[JPT][hapmap]
rs7137752	1.00[JPT][hapmap]
rs7297848	0.86[JPT][hapmap]
rs7297934	0.83[ASN][1000 genomes]
rs7298447	0.92[JPT][hapmap]
rs7302127	0.83[CEU][hapmap]
rs7303882	1.00[JPT][hapmap]
rs7308498	1.00[JPT][hapmap]
rs7311972	1.00[JPT][hapmap]
rs7312388	0.84[ASN][1000 genomes]
rs7316144	1.00[JPT][hapmap]
rs7484620	0.80[ASN][1000 genomes]
rs7486428	0.83[CEU][hapmap];0.88[MEX][hapmap]
rs7959666	1.00[JPT][hapmap]
rs7973240	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7487081	TESC	cis	parietal	SCAN
rs7487081	C12orf49	cis	parietal	SCAN
rs7487081	ERP29	cis	cerebellum	SCAN
rs7487081	HRK	cis	multi-tissue	Pritchard

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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