Variant report

Variant	rs2504033
Chromosome Location	chr1:179703019-179703020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1052447	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs10798718	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs10798719	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs10798720	0.85[CHB][hapmap];0.82[ASN][1000 genomes]
rs10798721	0.84[CHB][hapmap];0.82[ASN][1000 genomes]
rs10913874	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs10913875	0.90[CHB][hapmap]
rs10913876	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs10913877	0.82[ASN][1000 genomes]
rs10913878	0.90[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs10913879	0.85[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs11578918	0.90[CHB][hapmap]
rs11588754	0.92[ASN][1000 genomes]
rs12047821	0.81[ASN][1000 genomes]
rs12408874	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs12408882	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs16854629	0.90[CHB][hapmap]
rs2245195	0.90[CHB][hapmap];0.87[CHD][hapmap];0.82[ASN][1000 genomes]
rs2245610	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2245702	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2318389	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs2454195	0.82[ASN][1000 genomes]
rs2454196	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs2454197	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2487739	0.85[ASN][1000 genomes]
rs2487740	0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[ASN][1000 genomes]
rs2487746	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2504032	0.96[ASN][1000 genomes]
rs2504034	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2504035	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504038	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2504039	0.82[ASN][1000 genomes]
rs2504040	0.82[ASN][1000 genomes]
rs2504041	0.82[ASN][1000 genomes]
rs2504042	0.82[ASN][1000 genomes]
rs2504043	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504048	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2504053	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs3845381	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs3845382	0.85[CHB][hapmap]
rs3845383	0.81[CHB][hapmap];0.85[CHD][hapmap]
rs3856045	0.82[ASN][1000 genomes]
rs3909014	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs3909015	0.82[ASN][1000 genomes]
rs4469684	0.82[ASN][1000 genomes]
rs4511077	0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs4651050	0.85[ASN][1000 genomes]
rs60556788	0.80[ASN][1000 genomes]
rs61828370	0.81[ASN][1000 genomes]
rs6663482	0.82[ASN][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	nsv548339	chr1:179686244-179722827	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2504033	SH3BGRL2	trans	parietal	SCAN
rs2504033	TNR	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179702800-179703200	Enhancers	Fetal Brain Male	brain
2	chr1:179703000-179704000	Enhancers	Fetal Brain Female	brain

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