Variant report

Variant	rs4756987
Chromosome Location	chr11:19109704-19109705
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1012929	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1039512	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10833057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10833058	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10833059	0.89[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10833060	0.98[EUR][1000 genomes]
rs10833061	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10833062	0.84[CEU][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs10833063	0.81[AMR][1000 genomes]
rs11024984	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11024997	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11025001	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs11025009	0.93[ASN][1000 genomes]
rs11025010	0.93[ASN][1000 genomes]
rs11025011	0.97[EUR][1000 genomes]
rs11025013	0.83[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11025014	0.83[AMR][1000 genomes]
rs11025016	0.81[AMR][1000 genomes]
rs11025017	0.81[AMR][1000 genomes]
rs11025018	0.85[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs11025020	0.81[AMR][1000 genomes]
rs11601935	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11606080	0.95[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11606222	0.83[AMR][1000 genomes]
rs11608243	0.81[TSI][hapmap]
rs12223284	0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs16936167	0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs1962511	0.95[ASN][1000 genomes]
rs2089051	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4756988	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4756989	0.84[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4757751	1.00[ASN][1000 genomes]
rs4757753	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs7123033	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs7125292	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7125667	1.00[ASN][1000 genomes]
rs7125678	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs962317	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756987	NAV2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19104800-19111800	Weak transcription	Esophagus	oesophagus
2	chr11:19108200-19113400	Enhancers	HUVEC	blood vessel
3	chr11:19108600-19110000	Enhancers	Osteobl	bone
4	chr11:19108800-19110000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:19108800-19110000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:19109000-19110000	Enhancers	NH-A	brain
7	chr11:19109200-19109800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:19109400-19109800	Enhancers	NHEK	skin
9	chr11:19109400-19110000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:19109600-19110000	Enhancers	HSMM	muscle
11	chr11:19109600-19110600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links