Variant report

Variant	rs1464443
Chromosome Location	chr2:212914726-212914727
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10197270	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10445808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10497958	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11692869	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12373751	1.00[CHB][hapmap]
rs12464843	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs12468427	0.98[ASN][1000 genomes]
rs12470737	1.00[CHB][hapmap]
rs12473708	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12476163	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12477159	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs12478950	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1402716	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1402718	1.00[CHB][hapmap]
rs1473636	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1473638	1.00[CHB][hapmap]
rs1521537	1.00[CHD][hapmap];0.86[GIH][hapmap]
rs1521550	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1521553	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1546717	1.00[CHD][hapmap]
rs16847568	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs16847575	1.00[CHB][hapmap]
rs16847580	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17343912	1.00[CHB][hapmap]
rs17343932	1.00[CHB][hapmap]
rs17344051	1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs17344065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17415969	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17416172	1.00[CHB][hapmap]
rs2139939	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2139940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2371444	1.00[CHB][hapmap]
rs4672634	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4672636	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.95[ASN][1000 genomes]
rs4672637	0.93[ASN][1000 genomes]
rs56993927	0.93[ASN][1000 genomes]
rs60885616	0.98[ASN][1000 genomes]
rs61193005	0.93[ASN][1000 genomes]
rs6435691	1.00[CHB][hapmap]
rs6712126	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[ASN][1000 genomes]
rs7574462	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7582903	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs939645	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs960824	0.83[CHD][hapmap]
rs9678219	1.00[CHB][hapmap];1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	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
4	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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
7	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1014136	chr2:212883977-212915640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	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
10	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

Variant related diseases (count:1)

Disease	PMID	Source
Amyotrophic lateral sclerosis (sporadic)	24529757	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1464443	VWC2L	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212913800-212916800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:212914600-212915600	Weak transcription	Osteobl	bone

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