Variant report

Variant	rs1595181
Chromosome Location	chr16:58804365-58804366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs1058192	0.85[EUR][1000 genomes]
rs11076259	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11076260	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11076262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs12325516	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12709012	0.84[EUR][1000 genomes]
rs1369933	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1369934	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs14221	0.89[EUR][1000 genomes]
rs1473205	0.80[ASN][1000 genomes]
rs1473206	0.80[ASN][1000 genomes]
rs1595180	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1616072	0.86[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1616798	0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs1618602	0.84[EUR][1000 genomes]
rs1624301	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1626006	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1646265	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1646268	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1646269	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1646274	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1646275	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1646278	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1646279	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1646280	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1646281	0.84[EUR][1000 genomes]
rs1646282	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1646284	0.84[EUR][1000 genomes]
rs1646285	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1646286	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1646287	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1646288	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1657161	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1657163	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1657164	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1657166	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1657167	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1657169	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1657171	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1657176	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1657178	0.86[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1657179	0.83[CHD][hapmap];0.86[JPT][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs166290	0.82[AMR][1000 genomes]
rs171786	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs173992	0.82[EUR][1000 genomes]
rs183757	0.84[EUR][1000 genomes]
rs185397	1.00[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs1865836	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs187277	0.89[EUR][1000 genomes]
rs191783	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2432621	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2432622	0.82[EUR][1000 genomes]
rs2575374	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs257616	1.00[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs257617	0.89[EUR][1000 genomes]
rs257618	0.89[CEU][hapmap]
rs257619	0.89[EUR][1000 genomes]
rs257620	1.00[CEU][hapmap];0.97[TSI][hapmap]
rs257621	0.96[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs257624	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs257627	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs257628	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs257629	0.84[EUR][1000 genomes]
rs257630	0.96[CEU][hapmap];0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs257631	0.89[EUR][1000 genomes]
rs257632	0.89[EUR][1000 genomes]
rs257633	0.89[EUR][1000 genomes]
rs257636	0.86[EUR][1000 genomes]
rs257637	0.89[EUR][1000 genomes]
rs257638	0.87[EUR][1000 genomes]
rs30842	0.81[TSI][hapmap]
rs4238801	0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs4315316	0.84[EUR][1000 genomes]
rs4499224	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs4538000	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4575523	0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs4784977	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6499974	0.88[CHB][hapmap];0.94[JPT][hapmap]
rs6499976	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap]
rs7188608	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs727484	0.86[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72792430	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8044542	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8045466	0.84[EUR][1000 genomes]
rs8046154	0.81[TSI][hapmap];0.85[EUR][1000 genomes]
rs8049462	0.84[EUR][1000 genomes]
rs8051078	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8054414	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8060717	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8060721	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs863944	0.89[CEU][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap]
rs9937713	0.82[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1595181	GOT2	cis	Thyroid	GTEx
rs1595181	GOT2	cis	cerebellum	SCAN
rs1595181	GOT2	cis	Skin Sun Exposed Lower leg	GTEx
rs1595181	CSNK2A2	cis	cerebellum	SCAN

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

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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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