Variant report

Variant	rs2460052
Chromosome Location	chr11:93757395-93757396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10501811	0.93[CEU][hapmap]
rs10501813	0.81[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs11823303	0.81[EUR][1000 genomes]
rs11825709	0.88[ASN][1000 genomes]
rs11825763	0.93[CEU][hapmap]
rs1401184	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1518560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1589166	0.94[ASN][1000 genomes]
rs1607401	0.94[ASN][1000 genomes]
rs16919810	0.81[EUR][1000 genomes]
rs16919815	0.81[EUR][1000 genomes]
rs1850656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894165	0.94[ASN][1000 genomes]
rs1894166	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1945786	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1945787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2020351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102857	0.94[ASN][1000 genomes]
rs2139089	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2176563	0.94[ASN][1000 genomes]
rs2203793	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2213108	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2213110	0.91[ASN][1000 genomes]
rs2399750	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2456556	0.85[EUR][1000 genomes]
rs2460049	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2460050	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460053	0.94[ASN][1000 genomes]
rs2460064	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460065	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2460069	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460070	0.94[ASN][1000 genomes]
rs2462733	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2462735	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2462756	0.93[ASN][1000 genomes]
rs2462757	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2462758	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2462759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2462760	0.92[ASN][1000 genomes]
rs2462763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511381	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511411	0.94[ASN][1000 genomes]
rs56938392	0.92[ASN][1000 genomes]
rs57106172	0.88[ASN][1000 genomes]
rs57586533	0.88[ASN][1000 genomes]
rs57953549	0.82[ASN][1000 genomes]
rs59689949	0.88[ASN][1000 genomes]
rs59793398	0.92[ASN][1000 genomes]
rs66514329	0.94[ASN][1000 genomes]
rs66523751	0.80[ASN][1000 genomes]
rs66538341	0.88[ASN][1000 genomes]
rs66977226	0.88[ASN][1000 genomes]
rs67001808	0.92[ASN][1000 genomes]
rs67243356	0.88[ASN][1000 genomes]
rs67412659	0.92[ASN][1000 genomes]
rs67988338	0.88[ASN][1000 genomes]
rs7107851	0.81[EUR][1000 genomes]
rs72964631	0.92[ASN][1000 genomes]
rs72964645	0.92[ASN][1000 genomes]
rs72964666	0.94[ASN][1000 genomes]
rs72966608	0.81[EUR][1000 genomes]
rs72966637	0.81[EUR][1000 genomes]
rs73551180	0.80[ASN][1000 genomes]
rs73564796	0.92[ASN][1000 genomes]
rs73564799	0.92[ASN][1000 genomes]
rs959342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978777	0.93[ASN][1000 genomes]
rs989088	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049467	chr11:93651025-93778717	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2460052	HEPHL1	cis	Artery Aorta	GTEx
rs2460052	HEPHL1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93752200-93758000	Weak transcription	NH-A	brain
2	chr11:93755000-93757400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:93755600-93760600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:93755800-93761200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:93756200-93759000	Enhancers	HMEC	breast
6	chr11:93756600-93758000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:93756800-93757600	Enhancers	Fetal Kidney	kidney
8	chr11:93756800-93758000	Enhancers	K562	blood
9	chr11:93757000-93758000	Enhancers	Fetal Lung	lung
10	chr11:93757200-93757600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:93757200-93758000	Enhancers	NHEK	skin

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