Variant report

Variant	rs11173159
Chromosome Location	chr12:60203658-60203659
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10431557	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs10506398	0.96[CEU][hapmap];0.81[CHB][hapmap];0.81[EUR][1000 genomes]
rs10506399	0.85[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10877338	0.85[CHB][hapmap]
rs10877342	0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs11173124	0.82[EUR][1000 genomes]
rs11173126	0.91[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11173133	0.80[CEU][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173134	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173137	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11173158	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173164	0.83[ASN][1000 genomes]
rs12227214	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12227244	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs12227270	0.87[CEU][hapmap];0.81[CHB][hapmap]
rs12231311	0.90[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12231693	0.90[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12231740	0.81[CHB][hapmap]
rs12232002	0.90[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12812799	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12816935	0.83[CHB][hapmap]
rs17572877	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17572912	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17649424	0.90[CHB][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17650311	0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1795884	0.81[CHB][hapmap]
rs1795896	0.90[CHB][hapmap]
rs2365316	0.83[ASN][1000 genomes]
rs2365317	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2365318	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2706295	0.81[ASN][1000 genomes]
rs2706306	0.85[CHB][hapmap]
rs2706309	0.85[CHB][hapmap]
rs2706319	0.84[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap]
rs2711655	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2711656	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs2711659	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs2711668	0.85[CHB][hapmap]
rs2711691	0.81[ASN][1000 genomes]
rs2886339	0.83[ASN][1000 genomes]
rs34264510	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34639075	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34785387	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35218918	0.94[ASN][1000 genomes]
rs35365387	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35518979	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35971116	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3763980	0.90[CHB][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4583011	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56682442	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61174819	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6581274	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66802005	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66861118	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68028492	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7133415	0.92[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7303876	0.91[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7307330	0.83[ASN][1000 genomes]
rs73111880	0.88[AFR][1000 genomes]
rs7979504	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9705733	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788077	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];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	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	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
5	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
6	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11173159	SLC16A7	cis	multi-tissue	Pritchard
rs11173159	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60190000-60206200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:60198200-60206000	Weak transcription	Aorta	Aorta
3	chr12:60202200-60204400	Weak transcription	Fetal Heart	heart

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