Variant report

Variant	rs17344051
Chromosome Location	chr2:212947356-212947357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10197270	1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10445808	0.91[JPT][hapmap]
rs10497958	0.83[CEU][hapmap];0.91[JPT][hapmap]
rs10932419	0.82[ASN][1000 genomes]
rs11692869	0.93[ASN][1000 genomes]
rs12464843	0.85[CHD][hapmap];0.82[MEX][hapmap]
rs12468427	0.89[ASN][1000 genomes]
rs12473708	1.00[ASW][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12476163	0.91[JPT][hapmap]
rs12477159	1.00[ASW][hapmap];0.85[CHD][hapmap]
rs12478950	1.00[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1357125	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1357126	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1402716	1.00[CHD][hapmap]
rs1464443	1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs1473636	1.00[CHD][hapmap]
rs1521537	1.00[CHD][hapmap]
rs1521550	0.83[CHD][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs1521553	1.00[CHD][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs1546717	1.00[CHD][hapmap]
rs16847568	1.00[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs16847580	1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs17343912	0.83[CEU][hapmap]
rs17343932	0.83[CEU][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17344065	0.91[CEU][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17415843	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17415969	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.91[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17416172	0.83[CHD][hapmap]
rs1851261	0.87[ASN][1000 genomes]
rs2043888	1.00[ASW][hapmap]
rs2139939	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs2139940	0.91[JPT][hapmap]
rs2371436	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4672634	0.91[JPT][hapmap]
rs4672636	1.00[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs4672637	0.98[ASN][1000 genomes]
rs4672638	0.84[ASN][1000 genomes]
rs56993927	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60885616	0.89[ASN][1000 genomes]
rs61193005	0.85[ASN][1000 genomes]
rs6435691	0.83[CHD][hapmap]
rs6712126	1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs7574462	1.00[CHD][hapmap]
rs939645	1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs960824	0.83[CHD][hapmap]
rs9678219	1.00[CHD][hapmap]

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	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17344051	VWC2L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212946600-212959400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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