Variant report

Variant	rs4784982
Chromosome Location	chr16:58825219-58825220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11076259	0.82[EUR][1000 genomes]
rs11076260	0.82[EUR][1000 genomes]
rs12325516	0.81[EUR][1000 genomes]
rs12709012	0.82[EUR][1000 genomes]
rs1369933	0.82[EUR][1000 genomes]
rs1369934	0.82[EUR][1000 genomes]
rs1436427	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1595180	0.82[EUR][1000 genomes]
rs1616072	0.80[EUR][1000 genomes]
rs1618602	0.82[EUR][1000 genomes]
rs1624301	0.82[EUR][1000 genomes]
rs1626006	0.82[EUR][1000 genomes]
rs1646265	0.82[EUR][1000 genomes]
rs1646274	0.81[EUR][1000 genomes]
rs1646278	0.82[EUR][1000 genomes]
rs1646279	0.82[EUR][1000 genomes]
rs1646280	0.81[EUR][1000 genomes]
rs1646281	0.82[EUR][1000 genomes]
rs1646284	0.82[EUR][1000 genomes]
rs1646285	0.81[EUR][1000 genomes]
rs1646286	0.82[EUR][1000 genomes]
rs1646287	0.82[EUR][1000 genomes]
rs1646288	0.82[EUR][1000 genomes]
rs1657164	0.81[EUR][1000 genomes]
rs1657167	0.80[EUR][1000 genomes]
rs191783	0.82[EUR][1000 genomes]
rs257624	0.82[EUR][1000 genomes]
rs257627	0.82[EUR][1000 genomes]
rs257628	0.82[EUR][1000 genomes]
rs257629	0.82[EUR][1000 genomes]
rs4238801	0.80[EUR][1000 genomes]
rs4315316	0.82[EUR][1000 genomes]
rs4427787	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4538000	0.80[EUR][1000 genomes]
rs4575523	0.80[EUR][1000 genomes]
rs6499984	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6499985	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6499986	0.82[EUR][1000 genomes]
rs7184377	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7194961	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs727484	0.82[EUR][1000 genomes]
rs8044542	0.81[EUR][1000 genomes]
rs8045466	0.82[EUR][1000 genomes]
rs8046154	0.82[EUR][1000 genomes]
rs8049462	0.82[EUR][1000 genomes]
rs8051078	0.82[EUR][1000 genomes]
rs8054414	0.81[EUR][1000 genomes]
rs8060717	0.82[EUR][1000 genomes]
rs8060721	0.82[EUR][1000 genomes]
rs899375	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9302706	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9937713	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv520998	chr16:58807542-58834219	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3393800	chr16:58812500-58840628	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4784982	GOT2	cis	Skin Sun Exposed Lower leg	GTEx
rs4784982	GOT2	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58823600-58825400	Weak transcription	K562	blood
2	chr16:58824800-58825800	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links