Variant report

Variant	rs12465733
Chromosome Location	chr2:187871279-187871280
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	EP300	chr2:187871273-187871328	K562	blood:	n/a	n/a
2	REST	chr2:187871229-187871881	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:187870104..187873054-chr2:187885358..187887702,2	K562	blood:

Variant related genes	Relation type
ENSG00000226553	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10205822	0.86[CEU][hapmap];0.87[GIH][hapmap]
rs10931267	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11894779	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11902984	0.83[AMR][1000 genomes]
rs12464291	0.82[EUR][1000 genomes]
rs12469871	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12471570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12477604	0.81[AMR][1000 genomes]
rs12614343	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.94[YRI][hapmap]
rs12616398	0.81[AMR][1000 genomes]
rs13000137	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13005588	0.83[AMR][1000 genomes]
rs13024632	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13431778	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16828625	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2370734	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2370735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370737	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2887838	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34460383	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34938912	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35252928	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35995403	0.83[AMR][1000 genomes]
rs3845713	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3856420	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4093127	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4277485	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4667133	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4667138	0.86[CEU][hapmap];0.87[GIH][hapmap]
rs56121767	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6733991	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72904956	0.85[AMR][1000 genomes]
rs72910639	0.83[AMR][1000 genomes]
rs7602307	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602536	0.90[ASN][1000 genomes]
rs7602852	0.87[EUR][1000 genomes];0.92[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	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv528437	chr2:187778830-187907901	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv999207	chr2:187787121-187924667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv536084	chr2:187787121-187924667	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv875553	chr2:187856937-188067355	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12465733	TMEM194B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187866800-187875600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:187868800-187872600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:187868800-187877000	Weak transcription	Placenta	Placenta

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