Variant report

Variant	rs2716738
Chromosome Location	chr2:39884712-39884713
allele	C/T
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:50)

rs_ID	r²[population]
rs10170462	0.96[CEU][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs10177801	0.90[EUR][1000 genomes]
rs10186346	0.96[CEU][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs10208929	0.90[EUR][1000 genomes]
rs11124689	0.90[EUR][1000 genomes]
rs12613210	0.88[EUR][1000 genomes]
rs12712652	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12989245	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13384364	0.92[EUR][1000 genomes]
rs13405084	0.94[EUR][1000 genomes]
rs13409487	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1548870	0.90[EUR][1000 genomes]
rs1548871	0.90[EUR][1000 genomes]
rs1861244	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2041736	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2058618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.89[LWK][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2215956	0.90[EUR][1000 genomes]
rs2540200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2540247	0.96[CEU][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes]
rs2540248	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2540249	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2540250	0.92[EUR][1000 genomes]
rs2540251	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2540252	0.94[EUR][1000 genomes]
rs2540255	0.95[CEU][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.96[EUR][1000 genomes]
rs2716682	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2716683	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2716684	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2716686	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2716687	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2716688	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2716690	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2716691	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2716692	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2716693	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2716694	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2716719	0.89[EUR][1000 genomes]
rs2716720	0.90[EUR][1000 genomes]
rs2716732	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2716737	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35791480	0.87[EUR][1000 genomes]
rs4670952	0.94[EUR][1000 genomes]
rs4670954	0.87[EUR][1000 genomes]
rs6707177	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711206	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6736442	0.90[EUR][1000 genomes]
rs6748628	0.89[EUR][1000 genomes]
rs917964	0.96[CEU][hapmap];0.84[JPT][hapmap];0.96[EUR][1000 genomes]
rs949812	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949813	0.96[CEU][hapmap];0.95[EUR][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	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2716738	THUMPD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39884400-39885000	Enhancers	Left Ventricle	heart

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