Variant report

Variant	rs4910756
Chromosome Location	chr11:5372856-5372857
allele	A/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	POLR2A	chr11:5372833-5373401	K562	blood:	n/a	n/a
2	POLR2A	chr11:5372676-5373272	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000230087	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10500635	1.00[JPT][hapmap]
rs10500636	1.00[JPT][hapmap]
rs10500639	0.92[CEU][hapmap]
rs11036919	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11036928	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11036984	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11037061	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11037070	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11037444	0.85[CEU][hapmap]
rs11826587	1.00[JPT][hapmap]
rs12279751	0.92[CEU][hapmap]
rs12281453	0.89[CEU][hapmap]
rs12289659	0.87[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291806	0.81[CEU][hapmap]
rs12802242	1.00[JPT][hapmap]
rs12804113	1.00[ASN][1000 genomes]
rs12808928	1.00[JPT][hapmap]
rs16930124	1.00[JPT][hapmap]
rs16931034	0.85[CEU][hapmap]
rs16931041	0.85[CEU][hapmap]
rs17359438	0.92[CEU][hapmap];0.96[GIH][hapmap];0.93[MEX][hapmap]
rs2467233	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467234	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647597	1.00[CEU][hapmap]
rs2736552	1.00[JPT][hapmap]
rs4243954	1.00[JPT][hapmap]
rs4243956	1.00[JPT][hapmap]
rs4243958	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243959	1.00[JPT][hapmap]
rs4243960	0.85[CEU][hapmap]
rs4296065	1.00[JPT][hapmap]
rs4300412	1.00[JPT][hapmap]
rs4306312	1.00[JPT][hapmap]
rs4338558	1.00[JPT][hapmap]
rs4347419	1.00[JPT][hapmap]
rs4369438	1.00[JPT][hapmap]
rs4373970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4439540	1.00[JPT][hapmap]
rs4462380	1.00[JPT][hapmap]
rs4494330	1.00[JPT][hapmap]
rs4910564	0.81[CEU][hapmap]
rs4910752	1.00[JPT][hapmap]
rs4910755	1.00[JPT][hapmap]
rs4910761	1.00[JPT][hapmap]
rs4910775	1.00[JPT][hapmap]
rs4910776	1.00[JPT][hapmap]
rs4910780	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs5006882	1.00[JPT][hapmap]
rs5006883	0.87[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.94[TSI][hapmap]
rs5006884	1.00[JPT][hapmap]
rs5006885	1.00[JPT][hapmap]
rs5006886	1.00[JPT][hapmap]
rs5006889	1.00[JPT][hapmap]
rs5024042	1.00[JPT][hapmap]
rs7112862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7113565	1.00[JPT][hapmap]
rs7113817	1.00[JPT][hapmap]
rs7117560	1.00[JPT][hapmap]
rs7131367	1.00[JPT][hapmap]
rs71488544	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71488553	1.00[ASN][1000 genomes]
rs7483122	1.00[JPT][hapmap]
rs7929412	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs7948662	1.00[JPT][hapmap]
rs9665744	0.92[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap]
rs9666787	0.92[CEU][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	nsv524400	chr11:5328361-5416622	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
3	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv896931	chr11:5357881-5505149	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv18780	chr11:5372010-5384809	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4910756	FAM99A	cis	parietal	SCAN
rs4910756	RIC3	cis	cerebellum	SCAN
rs4910756	LSP1	cis	cerebellum	SCAN
rs4910756	OR51A7	cis	cerebellum	SCAN
rs4910756	KRTAP5-2	cis	cerebellum	SCAN
rs4910756	C11orf21	cis	cerebellum	SCAN
rs4910756	OR51B2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5365600-5382600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5370200-5376000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:5372800-5373000	Genic enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links