Variant report

Variant	rs1583183
Chromosome Location	chr3:116112245-116112246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10212415	0.99[ASN][1000 genomes]
rs10212559	0.99[ASN][1000 genomes]
rs1030577	0.86[ASN][1000 genomes]
rs11924642	0.87[ASN][1000 genomes]
rs11928524	0.87[ASN][1000 genomes]
rs12695326	0.87[ASN][1000 genomes]
rs13068349	0.85[ASN][1000 genomes]
rs13069948	0.99[ASN][1000 genomes]
rs13070962	0.99[ASN][1000 genomes]
rs13073414	0.86[ASN][1000 genomes]
rs13077694	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13088599	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13323946	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1367770	0.87[ASN][1000 genomes]
rs1731596	0.97[ASN][1000 genomes]
rs17647091	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1920183	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34642483	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35061171	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4271908	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4831096	0.99[ASN][1000 genomes]
rs4831133	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831134	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831136	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4831138	0.99[ASN][1000 genomes]
rs6438315	0.87[ASN][1000 genomes]
rs6775240	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6786130	0.85[ASN][1000 genomes]
rs71323440	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71625206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7619907	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629472	1.00[ASN][1000 genomes]
rs7630011	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7634137	0.87[ASN][1000 genomes]
rs7637573	0.99[ASN][1000 genomes]
rs7652554	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7652923	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289050	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9289051	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9823016	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9827984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833356	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9838534	1.00[ASN][1000 genomes]
rs9860105	0.94[ASN][1000 genomes]
rs9860236	0.99[ASN][1000 genomes]
rs9860260	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9861474	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9989972	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9990359	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877361	chr3:116017931-116138039	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757005	chr3:116085678-116121948	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv2759170	chr3:116085678-116121948	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1583183	RNF152	trans	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116103000-116142000	Weak transcription	Fetal Lung	lung
2	chr3:116108000-116113400	Weak transcription	Brain Angular Gyrus	brain
3	chr3:116108200-116115200	Weak transcription	Brain Anterior Caudate	brain
4	chr3:116108400-116112800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:116108400-116113400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr3:116108400-116113600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:116108600-116113200	Weak transcription	Brain Substantia Nigra	brain
8	chr3:116108600-116113800	Weak transcription	Brain Hippocampus Middle	brain
9	chr3:116108600-116114200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:116109200-116118600	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:116109600-116118400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:116110600-116112400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:116110600-116112600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr3:116111000-116112600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:116111400-116116600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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