Variant report

Variant	rs11173158
Chromosome Location	chr12:60201966-60201967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:60201966-60202522	GM12878	blood:	n/a	chr12:60202281-60202302 chr12:60202499-60202507 chr12:60202286-60202304 chr12:60202291-60202299
2	CTCF	chr12:60201928-60202627	SK-N-SH	brain:	n/a	chr12:60202281-60202302 chr12:60202499-60202507 chr12:60202286-60202304 chr12:60202291-60202299
3	RAD21	chr12:60201920-60202634	SK-N-SH	brain:	n/a	chr12:60202294-60202301 chr12:60202290-60202299 chr12:60202284-60202303
4	CTCF	chr12:60201920-60202070	HFF	foreskin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:60201872..60202711-chr12:60228771..60229623,3	MCF-7	breast:
2	chr12:59825209..59825865-chr12:60201866..60202550,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237176	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10506399	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877338	0.80[ASN][1000 genomes]
rs10877342	0.85[ASN][1000 genomes]
rs11173124	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11173126	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173133	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173134	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11173137	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11173159	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173164	0.85[ASN][1000 genomes]
rs11173170	0.91[AFR][1000 genomes]
rs12227214	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12231311	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12231693	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12232002	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12812799	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17572877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17572912	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649424	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17650311	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1795884	0.81[ASN][1000 genomes]
rs1795896	0.80[ASN][1000 genomes]
rs2365314	0.91[AFR][1000 genomes]
rs2365315	0.91[AFR][1000 genomes]
rs2365316	0.85[ASN][1000 genomes]
rs2365317	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2365318	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706295	0.83[ASN][1000 genomes]
rs2706306	0.80[ASN][1000 genomes]
rs2706309	0.81[ASN][1000 genomes]
rs2706319	0.81[ASN][1000 genomes]
rs2711655	0.83[ASN][1000 genomes]
rs2711656	0.83[ASN][1000 genomes]
rs2711659	0.83[ASN][1000 genomes]
rs2711668	0.80[ASN][1000 genomes]
rs2711670	0.81[ASN][1000 genomes]
rs2711672	0.81[ASN][1000 genomes]
rs2711677	0.81[ASN][1000 genomes]
rs2711691	0.83[ASN][1000 genomes]
rs2886339	0.85[ASN][1000 genomes]
rs34264510	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34639075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34785387	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35218918	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35365387	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35518979	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35971116	0.95[ASN][1000 genomes]
rs3763980	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4583011	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56682442	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61174819	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6581274	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66802005	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66861118	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68028492	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7133415	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7303876	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7307330	0.85[ASN][1000 genomes]
rs7975905	0.91[AFR][1000 genomes]
rs7979504	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9705733	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9788077	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11173158	SLC16A7	Cis_1M	lymphoblastoid	RTeQTL
rs11173158	SLC16A7	cis	multi-tissue	Pritchard

Chromatin state (count:2 , 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

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