Variant report

Variant	rs2602647
Chromosome Location	chr2:125664021-125664022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10165689	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10189275	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11891962	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11894518	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs11898056	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1340187	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1361439	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17637918	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17637939	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1840202	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1840205	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs1840206	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1840207	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1966870	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs2068359	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2226028	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs2249026	0.92[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs2602644	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2602645	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2602646	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2602649	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap]
rs2602655	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2685170	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs2791629	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2791631	0.96[CEU][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2791636	1.00[CHD][hapmap];0.93[JPT][hapmap]
rs58560012	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62173301	0.83[ASN][1000 genomes]
rs6541974	0.86[EUR][1000 genomes]
rs6716082	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6721641	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834360	chr2:125492685-125683200	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv834361	chr2:125601081-125810992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2602647	WDR33	cis	parietal	SCAN
rs2602647	AMMECR1L	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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