Variant report

Variant	rs2598461
Chromosome Location	chr1:103298338-103298339
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1012282	1.00[JPT][hapmap]
rs10874665	1.00[JPT][hapmap]
rs10874668	1.00[JPT][hapmap]
rs11164648	1.00[JPT][hapmap]
rs11164649	1.00[JPT][hapmap]
rs11164653	1.00[JPT][hapmap]
rs11809524	1.00[JPT][hapmap]
rs11811018	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12025848	1.00[JPT][hapmap]
rs12047268	1.00[JPT][hapmap]
rs12118365	1.00[JPT][hapmap]
rs12119459	1.00[JPT][hapmap]
rs12124588	1.00[JPT][hapmap]
rs12136748	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12139120	1.00[JPT][hapmap]
rs1241162	1.00[JPT][hapmap]
rs1241164	0.82[CHB][hapmap]
rs1241166	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241172	0.97[ASN][1000 genomes]
rs1241173	0.87[ASN][1000 genomes]
rs1241181	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241182	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241183	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1241190	0.87[ASN][1000 genomes]
rs1241197	0.92[ASN][1000 genomes]
rs12723167	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12723922	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12724152	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12726958	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12728397	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12729449	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12729602	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12731843	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12733933	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12738133	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12743365	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12744290	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12744488	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12748410	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12749981	0.87[ASN][1000 genomes]
rs12752702	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12756627	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1463034	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1463035	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1463037	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1463038	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1463039	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1564143	1.00[JPT][hapmap]
rs1621055	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1622838	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1676493	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676494	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1676497	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676498	1.00[JPT][hapmap]
rs1676499	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676500	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1676501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1676502	1.00[JPT][hapmap]
rs17447925	1.00[CHB][hapmap]
rs17506286	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1763344	1.00[JPT][hapmap]
rs1763345	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1763346	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1870958	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1903787	1.00[JPT][hapmap]
rs1932336	0.87[ASN][1000 genomes]
rs1932342	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050601	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2061704	1.00[JPT][hapmap]
rs2065922	1.00[JPT][hapmap]
rs2199554	0.82[EUR][1000 genomes]
rs2199555	0.81[EUR][1000 genomes]
rs2252146	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2254082	1.00[JPT][hapmap]
rs2615977	1.00[JPT][hapmap]
rs2615987	1.00[JPT][hapmap]
rs2615999	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2622848	1.00[JPT][hapmap]
rs2622870	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2622874	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2622876	1.00[JPT][hapmap]
rs2622877	1.00[JPT][hapmap]
rs2622880	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2708397	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2783570	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2786120	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2786121	1.00[JPT][hapmap]
rs2786122	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2786125	1.00[JPT][hapmap]
rs2929163	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3102053	1.00[JPT][hapmap]
rs3767272	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4353117	1.00[CHB][hapmap]
rs472765	0.81[EUR][1000 genomes]
rs474472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4908280	1.00[JPT][hapmap]
rs511308	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514077	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514099	0.82[EUR][1000 genomes]
rs579692	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs583527	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs606756	1.00[ASN][1000 genomes]
rs618072	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621734	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629282	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631137	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636801	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs665275	0.81[EUR][1000 genomes]
rs6663034	1.00[JPT][hapmap]
rs6670486	1.00[JPT][hapmap]
rs6672647	1.00[JPT][hapmap]
rs670939	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687616	0.81[EUR][1000 genomes]
rs72681287	0.97[ASN][1000 genomes]
rs7532572	1.00[JPT][hapmap]
rs7544130	1.00[JPT][hapmap]
rs945748	1.00[JPT][hapmap]

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	nsv830882	chr1:103192683-103355802	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2598461	DBT	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103293000-103299200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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