Variant report

Variant	rs2511403
Chromosome Location	chr11:93754508-93754509
allele	C/T
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	STAT3	chr11:93754178-93754570	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr11:93754252-93754526	K562	blood:	n/a	chr11:93754307-93754324
3	TBP	chr11:93754392-93754599	H1-hESC	embryonic stem cell:	n/a	n/a
4	STAT3	chr11:93754057-93754526	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr11:93754272-93754577	H1-hESC	embryonic stem cell:	n/a	chr11:93754307-93754324
6	STAT3	chr11:93754053-93754526	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
HEPHL1	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10501811	0.87[CEU][hapmap]
rs10501813	0.88[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs11820915	0.82[EUR][1000 genomes]
rs11823303	0.84[EUR][1000 genomes]
rs11825709	0.88[ASN][1000 genomes]
rs11825763	0.87[CEU][hapmap]
rs11828737	0.82[EUR][1000 genomes]
rs1401184	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1518560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1518565	0.83[EUR][1000 genomes]
rs1518566	0.81[EUR][1000 genomes]
rs1568259	0.84[EUR][1000 genomes]
rs1589166	0.93[ASN][1000 genomes]
rs1607401	0.93[ASN][1000 genomes]
rs16919810	0.84[EUR][1000 genomes]
rs16919815	0.80[CEU][hapmap];0.84[EUR][1000 genomes]
rs16919858	0.80[EUR][1000 genomes]
rs1850656	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894165	0.93[ASN][1000 genomes]
rs1894166	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1914723	0.84[EUR][1000 genomes]
rs1945786	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1945787	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2020351	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102857	0.93[ASN][1000 genomes]
rs2139089	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2176563	0.93[ASN][1000 genomes]
rs2203793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2213108	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2213110	0.91[ASN][1000 genomes]
rs2399749	0.84[EUR][1000 genomes]
rs2399750	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2456556	0.90[EUR][1000 genomes]
rs2460049	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2460050	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460052	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2460053	0.93[ASN][1000 genomes]
rs2460064	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2460069	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2460070	0.93[ASN][1000 genomes]
rs2462733	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2462735	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2462756	0.93[ASN][1000 genomes]
rs2462757	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2462758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2462759	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2462760	0.92[ASN][1000 genomes]
rs2462763	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511380	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511381	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511411	0.93[ASN][1000 genomes]
rs4415716	0.82[EUR][1000 genomes]
rs56355412	0.82[EUR][1000 genomes]
rs56938392	0.92[ASN][1000 genomes]
rs57106172	0.88[ASN][1000 genomes]
rs57586533	0.88[ASN][1000 genomes]
rs57953549	0.85[ASN][1000 genomes]
rs59689949	0.88[ASN][1000 genomes]
rs59793398	0.92[ASN][1000 genomes]
rs66514329	0.93[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	0.84[EUR][1000 genomes]
rs72964631	0.92[ASN][1000 genomes]
rs72964645	0.92[ASN][1000 genomes]
rs72964666	0.93[ASN][1000 genomes]
rs72964672	0.80[EUR][1000 genomes]
rs72964674	0.82[EUR][1000 genomes]
rs72964683	0.82[EUR][1000 genomes]
rs72964690	0.82[EUR][1000 genomes]
rs72964693	0.82[EUR][1000 genomes]
rs72966608	0.84[EUR][1000 genomes]
rs72966612	0.82[EUR][1000 genomes]
rs72966637	0.84[EUR][1000 genomes]
rs73551180	0.84[ASN][1000 genomes]
rs73564796	0.92[ASN][1000 genomes]
rs73564799	0.92[ASN][1000 genomes]
rs959342	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959343	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs978777	0.93[ASN][1000 genomes]
rs989088	0.93[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
rs2511403	HEPHL1	cis	Artery Tibial	GTEx
rs2511403	HEPHL1	cis	Artery Aorta	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93750400-93754800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:93752200-93758000	Weak transcription	NH-A	brain
3	chr11:93753800-93755800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:93753800-93756200	Flanking Active TSS	NHEK	skin
5	chr11:93754000-93756200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:93754200-93754800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:93754200-93754800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:93754200-93754800	Enhancers	Aorta	Aorta
9	chr11:93754400-93754800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:93754400-93756200	Flanking Active TSS	HMEC	breast

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