Variant report

Variant	rs35971116
Chromosome Location	chr12:60212228-60212229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10506399	0.86[ASN][1000 genomes]
rs11173126	0.84[ASN][1000 genomes]
rs11173133	0.86[ASN][1000 genomes]
rs11173134	0.86[ASN][1000 genomes]
rs11173137	0.83[ASN][1000 genomes]
rs11173158	0.95[ASN][1000 genomes]
rs11173159	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11173169	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11173170	0.88[EUR][1000 genomes]
rs11173171	0.88[EUR][1000 genomes]
rs11173189	0.83[EUR][1000 genomes]
rs11173201	0.83[EUR][1000 genomes]
rs12049943	0.83[EUR][1000 genomes]
rs12227214	0.85[ASN][1000 genomes]
rs12231311	0.84[ASN][1000 genomes]
rs12231693	0.83[ASN][1000 genomes]
rs12232002	0.86[ASN][1000 genomes]
rs12812799	0.86[ASN][1000 genomes]
rs17572877	0.95[ASN][1000 genomes]
rs17572912	0.95[ASN][1000 genomes]
rs17649424	0.84[ASN][1000 genomes]
rs17650311	0.95[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2365314	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2365315	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2365317	0.95[ASN][1000 genomes]
rs2365318	0.95[ASN][1000 genomes]
rs34264510	0.86[ASN][1000 genomes]
rs34639075	0.95[ASN][1000 genomes]
rs34785387	0.86[ASN][1000 genomes]
rs35218918	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35365387	0.86[ASN][1000 genomes]
rs35518979	0.84[ASN][1000 genomes]
rs3763980	0.86[ASN][1000 genomes]
rs4539371	0.82[EUR][1000 genomes]
rs4583011	0.86[ASN][1000 genomes]
rs4758741	0.82[EUR][1000 genomes]
rs56682442	0.86[ASN][1000 genomes]
rs61174819	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6581274	0.95[ASN][1000 genomes]
rs66802005	0.86[ASN][1000 genomes]
rs66861118	0.86[ASN][1000 genomes]
rs68028492	0.84[ASN][1000 genomes]
rs7133415	0.84[ASN][1000 genomes]
rs7303876	0.84[ASN][1000 genomes]
rs73111880	0.84[AFR][1000 genomes]
rs7975905	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7979504	0.95[ASN][1000 genomes]
rs9705733	0.84[ASN][1000 genomes]
rs9788077	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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
rs35971116	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL
rs35971116	SLC16A7	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60209600-60212400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:60212200-60212800	Enhancers	Dnd41	blood

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