Variant report

Variant	rs840606
Chromosome Location	chr2:188150228-188150229
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10497680	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs13432953	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1386542	0.88[CEU][hapmap]
rs1398062	0.85[EUR][1000 genomes]
rs1511878	0.84[ASN][1000 genomes]
rs1706287	0.89[CEU][hapmap];0.92[GIH][hapmap]
rs17366895	1.00[CEU][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs17576288	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs17705816	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17705846	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28866036	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3771083	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs3771088	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3771095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3815524	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4482438	0.85[EUR][1000 genomes]
rs58059768	0.85[EUR][1000 genomes]
rs58601170	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59646699	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67285489	0.85[EUR][1000 genomes]
rs6729250	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs6753578	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs67937232	0.82[EUR][1000 genomes]
rs67965661	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs696574	0.89[CEU][hapmap]
rs698578	1.00[CEU][hapmap]
rs72895240	0.82[ASN][1000 genomes]
rs72898679	0.83[EUR][1000 genomes]
rs72898690	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72899252	0.82[ASN][1000 genomes]
rs72899256	0.82[ASN][1000 genomes]
rs72899265	0.82[ASN][1000 genomes]
rs72900656	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72902452	0.85[EUR][1000 genomes]
rs72904948	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72904991	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72910645	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7584162	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7588800	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs840617	0.80[CEU][hapmap];0.85[GIH][hapmap]
rs858745	0.89[CEU][hapmap];0.88[GIH][hapmap]
rs858750	0.89[CEU][hapmap];0.89[GIH][hapmap]

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	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	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763652	chr2:188042583-188153257	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv584032	chr2:188083217-188150228	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv584035	chr2:188105078-188153421	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv431868	chr2:188119621-188159750	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs840606	TMEM194B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188149400-188150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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