Variant report

Variant	rs9705733
Chromosome Location	chr12:60160544-60160545
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10506399	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877338	0.87[ASN][1000 genomes]
rs11173124	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11173126	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11173133	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173134	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173137	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173158	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173159	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12227214	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231311	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231693	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12232002	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812799	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17572877	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17572912	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17649424	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17650311	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795884	0.88[ASN][1000 genomes]
rs1795896	0.87[ASN][1000 genomes]
rs2365317	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2365318	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2706295	0.90[ASN][1000 genomes]
rs2706306	0.87[ASN][1000 genomes]
rs2706309	0.88[ASN][1000 genomes]
rs2706319	0.88[ASN][1000 genomes]
rs2711655	0.90[ASN][1000 genomes]
rs2711656	0.90[ASN][1000 genomes]
rs2711659	0.90[ASN][1000 genomes]
rs2711668	0.87[ASN][1000 genomes]
rs2711670	0.88[ASN][1000 genomes]
rs2711672	0.88[ASN][1000 genomes]
rs2711677	0.88[ASN][1000 genomes]
rs2711691	0.90[ASN][1000 genomes]
rs34264510	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34639075	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34785387	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35218918	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35365387	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35518979	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35971116	0.84[ASN][1000 genomes]
rs3763980	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4583011	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56682442	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61174819	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581274	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66802005	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66861118	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68028492	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7133415	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7303876	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7979504	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9788077	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv899133	chr12:60135504-60202218	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv899134	chr12:60141518-60263723	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv899135	chr12:60156046-60228610	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9705733	RP11-813P10.2	cis	Esophagus Muscularis	GTEx
rs9705733	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL
rs9705733	RP11-813P10.2	cis	Whole Blood	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
5	chr12:60132400-60165600	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:60137400-60161000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:60138600-60168400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:60138800-60173200	Weak transcription	Aorta	Aorta
9	chr12:60141800-60161000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:60152000-60182200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:60158000-60160800	Weak transcription	GM12878-XiMat	blood
12	chr12:60158000-60161000	Weak transcription	Primary T cells from cord blood	blood
13	chr12:60159000-60168400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:60159000-60172000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:60159400-60161000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:60159800-60186400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr12:60160200-60161000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:60160400-60186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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