Variant report

Variant	rs2449962
Chromosome Location	chr8:50815390-50815391
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10096242	0.86[AMR][1000 genomes]
rs10504093	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10957679	1.00[AMR][1000 genomes]
rs10957681	0.90[AMR][1000 genomes]
rs10957682	1.00[AMR][1000 genomes]
rs1157932	1.00[CEU][hapmap]
rs11777957	1.00[CEU][hapmap]
rs11782772	0.90[AMR][1000 genomes]
rs11783503	1.00[CEU][hapmap];0.83[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs11783607	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11783631	1.00[CEU][hapmap];0.83[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs12542536	0.84[AMR][1000 genomes]
rs12545695	0.90[AMR][1000 genomes]
rs12547245	1.00[AMR][1000 genomes]
rs1344326	1.00[CEU][hapmap];0.83[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs1385980	0.85[AMR][1000 genomes]
rs1486263	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1552377	1.00[AMR][1000 genomes]
rs1552379	0.90[AMR][1000 genomes]
rs16914039	1.00[CEU][hapmap]
rs170331	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2247368	0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2385696	1.00[CEU][hapmap]
rs2449960	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2449961	0.86[AMR][1000 genomes]
rs2450286	1.00[CEU][hapmap];0.90[GIH][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes]
rs2450287	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2450290	0.89[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2628420	0.97[AMR][1000 genomes]
rs318850	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318851	0.96[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs318853	0.96[GIH][hapmap];1.00[MEX][hapmap];0.90[AMR][1000 genomes]
rs318854	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs318858	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318859	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs318861	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs318874	1.00[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs379601	0.90[AMR][1000 genomes]
rs404309	0.90[AMR][1000 genomes]
rs404686	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs412929	0.90[AMR][1000 genomes]
rs4242456	1.00[CEU][hapmap]
rs4467946	0.89[MEX][hapmap]
rs451034	0.90[AMR][1000 genomes]
rs453906	0.90[AMR][1000 genomes]
rs4873120	1.00[CEU][hapmap]
rs4873121	1.00[CEU][hapmap]
rs4873123	1.00[CEU][hapmap]
rs4873402	1.00[MEX][hapmap]
rs6988440	1.00[AMR][1000 genomes]
rs7002291	0.90[AMR][1000 genomes]
rs7003221	0.90[AMR][1000 genomes]
rs7003721	0.82[AMR][1000 genomes]
rs7004973	1.00[CEU][hapmap]
rs7008449	0.90[AMR][1000 genomes]
rs7828900	1.00[CEU][hapmap]
rs7833377	1.00[CEU][hapmap]
rs967107	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2449962	ETV3L	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50814000-50819600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:50814000-50819800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:50814400-50816000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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