Variant report

Variant	rs35365387
Chromosome Location	chr12:60186051-60186052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10506399	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10877338	0.88[ASN][1000 genomes]
rs11173124	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173126	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173133	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173134	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11173137	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11173158	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173159	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173170	0.86[AFR][1000 genomes]
rs12227214	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12231311	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231693	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12232002	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12812799	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572877	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17572912	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17649424	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17650311	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795884	0.90[ASN][1000 genomes]
rs1795896	0.89[ASN][1000 genomes]
rs2365314	0.86[AFR][1000 genomes]
rs2365315	0.86[AFR][1000 genomes]
rs2365317	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2365318	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2706295	0.91[ASN][1000 genomes]
rs2706306	0.89[ASN][1000 genomes]
rs2706309	0.90[ASN][1000 genomes]
rs2706319	0.90[ASN][1000 genomes]
rs2711655	0.91[ASN][1000 genomes]
rs2711656	0.92[ASN][1000 genomes]
rs2711659	0.91[ASN][1000 genomes]
rs2711668	0.89[ASN][1000 genomes]
rs2711670	0.90[ASN][1000 genomes]
rs2711672	0.90[ASN][1000 genomes]
rs2711677	0.90[ASN][1000 genomes]
rs2711691	0.91[ASN][1000 genomes]
rs34264510	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34639075	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34785387	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35218918	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35518979	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35971116	0.86[ASN][1000 genomes]
rs3763980	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4583011	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682442	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61174819	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581274	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66802005	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66861118	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68028492	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133415	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303876	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975905	0.86[AFR][1000 genomes]
rs7979504	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9705733	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9788077	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
7	nsv559101	chr12:60164408-60202218	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv559102	chr12:60164408-60221898	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35365387	RP11-813P10.2	cis	Whole Blood	GTEx
rs35365387	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL
rs35365387	RP11-813P10.2	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60159800-60186400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:60161200-60186800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:60169200-60187000	Weak transcription	Primary B cells from cord blood	blood
4	chr12:60169400-60187600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:60169400-60189200	Weak transcription	Dnd41	blood
6	chr12:60173400-60189400	Weak transcription	Left Ventricle	heart
7	chr12:60185600-60186400	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr12:60185600-60186800	Strong transcription	Stomach Smooth Muscle	stomach
9	chr12:60186000-60186200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:60186000-60186200	Strong transcription	Adipose Nuclei	Adipose
11	chr12:60186000-60186400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr12:60186000-60186400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:60186000-60186400	ZNF genes & repeats	Lung	lung
14	chr12:60186000-60186800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:60186000-60187200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:60186000-60187200	ZNF genes & repeats	Aorta	Aorta
17	chr12:60186000-60187200	ZNF genes & repeats	Esophagus	oesophagus
18	chr12:60186000-60187200	ZNF genes & repeats	Pancreas	Pancrea

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