Variant report

Variant	rs10072214
Chromosome Location	chr5:40910625-40910626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10035225	0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs10035592	0.98[ASN][1000 genomes]
rs10035621	0.90[ASN][1000 genomes]
rs10041257	0.90[ASN][1000 genomes]
rs10041319	0.82[ASN][1000 genomes]
rs10046046	0.84[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10054948	0.90[JPT][hapmap]
rs10058274	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10060965	0.98[ASN][1000 genomes]
rs10063892	0.90[ASN][1000 genomes]
rs10066341	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10072099	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10073246	0.87[ASN][1000 genomes]
rs10076486	0.97[ASN][1000 genomes]
rs10077786	0.90[JPT][hapmap]
rs10080165	0.90[JPT][hapmap]
rs10472340	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10472342	0.90[JPT][hapmap]
rs10473227	0.98[ASN][1000 genomes]
rs10473228	0.98[ASN][1000 genomes]
rs10512750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10941526	0.92[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.83[ASN][1000 genomes]
rs10941527	0.98[ASN][1000 genomes]
rs1120308	0.98[ASN][1000 genomes]
rs11739731	0.98[ASN][1000 genomes]
rs11741315	0.98[ASN][1000 genomes]
rs11746650	0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12109051	0.96[ASN][1000 genomes]
rs12110278	0.86[ASN][1000 genomes]
rs12652909	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12657195	0.98[ASN][1000 genomes]
rs12658133	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12659571	0.87[ASN][1000 genomes]
rs13353861	0.81[ASN][1000 genomes]
rs13353862	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13353865	0.82[ASN][1000 genomes]
rs13354307	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13355045	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1393155	0.84[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs1615402	0.85[JPT][hapmap]
rs1645519	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs16870407	0.84[ASW][hapmap];1.00[CEU][hapmap];0.92[CHD][hapmap];0.89[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16870425	0.92[CHD][hapmap];0.94[JPT][hapmap];0.82[MEX][hapmap];0.82[ASN][1000 genomes]
rs16870434	0.84[ASW][hapmap];1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16870491	0.98[ASN][1000 genomes]
rs17175825	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs188932	0.90[JPT][hapmap]
rs2081153	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2329430	0.98[ASN][1000 genomes]
rs2329431	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2455307	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2455308	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs28718806	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2876848	0.98[ASN][1000 genomes]
rs28770573	0.98[ASN][1000 genomes]
rs28831497	0.97[ASN][1000 genomes]
rs28834109	0.97[ASN][1000 genomes]
rs28860325	0.98[ASN][1000 genomes]
rs28870511	0.98[ASN][1000 genomes]
rs323566	0.82[MEX][hapmap]
rs34888872	0.98[ASN][1000 genomes]
rs3792640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3792641	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3792642	0.89[JPT][hapmap]
rs4277953	0.97[ASN][1000 genomes]
rs4277954	0.98[ASN][1000 genomes]
rs439322	0.85[JPT][hapmap]
rs4461680	0.98[ASN][1000 genomes]
rs4559041	0.98[ASN][1000 genomes]
rs619491	0.86[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs62357612	0.82[ASN][1000 genomes]
rs62357636	0.90[ASN][1000 genomes]
rs62357641	0.90[ASN][1000 genomes]
rs62358575	0.98[ASN][1000 genomes]
rs72748000	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72749504	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72749508	0.82[ASN][1000 genomes]
rs72749510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72749514	0.90[ASN][1000 genomes]
rs72749521	0.87[ASN][1000 genomes]
rs72749526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72749562	0.84[EUR][1000 genomes]
rs7701643	0.98[ASN][1000 genomes]
rs7701662	0.87[ASN][1000 genomes]
rs7701871	0.98[ASN][1000 genomes]
rs7704691	0.98[ASN][1000 genomes]
rs7706776	0.98[ASN][1000 genomes]
rs7717388	0.90[JPT][hapmap]
rs7717391	0.90[JPT][hapmap]
rs7717457	0.86[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap]
rs7717794	0.98[ASN][1000 genomes]
rs7721703	0.82[ASN][1000 genomes]
rs7724262	0.98[ASN][1000 genomes]
rs9292788	0.88[JPT][hapmap]
rs9292793	0.98[ASN][1000 genomes]
rs9292794	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9292795	0.98[ASN][1000 genomes]
rs972007	0.98[ASN][1000 genomes]
rs972008	0.98[ASN][1000 genomes]
rs9885543	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881467	chr5:40869802-41008650	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2757114	chr5:40874078-41009282	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759341	chr5:40874078-41009282	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv823055	chr5:40875708-41004839	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv35077	chr5:40875843-41000671	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv830268	chr5:40897361-41138366	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10072214	HEBP2	trans	lymphoblastoid	seeQTL
rs10072214	MGC42105	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40905400-40915000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:40905600-40915000	Weak transcription	Gastric	stomach
3	chr5:40908800-40910800	Enhancers	Fetal Intestine Small	intestine
4	chr5:40908800-40916000	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:40909200-40913200	Active TSS	Fetal Lung	lung
6	chr5:40909200-40916800	Active TSS	Right Atrium	heart
7	chr5:40909400-40910800	Active TSS	Fetal Kidney	kidney
8	chr5:40909400-40911800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:40909400-40912400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr5:40909400-40913600	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr5:40909600-40915000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:40909600-40915000	Active TSS	Ovary	ovary
13	chr5:40909800-40915000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:40910000-40912000	Active TSS	Right Ventricle	heart
15	chr5:40910000-40915200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:40910200-40911200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:40910200-40911200	Weak transcription	Fetal Heart	heart
18	chr5:40910200-40915000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:40910600-40910800	Enhancers	Fetal Intestine Large	intestine
20	chr5:40910600-40911000	Weak transcription	Left Ventricle	heart
21	chr5:40910600-40911400	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:40910600-40915000	Weak transcription	Liver	Liver

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