Variant report

Variant	rs7614785
Chromosome Location	chr3:51167824-51167825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10212240	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212250	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130273	0.85[ASN][1000 genomes]
rs11130274	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11130282	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11712871	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11715556	0.82[ASN][1000 genomes]
rs11919932	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12494165	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12630889	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13060972	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1383252	0.82[EUR][1000 genomes]
rs1480363	0.82[EUR][1000 genomes]
rs2061951	0.82[EUR][1000 genomes]
rs2355934	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2355941	0.82[EUR][1000 genomes]
rs2355942	0.82[EUR][1000 genomes]
rs28470684	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28670710	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4130474	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244697	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4244699	0.85[ASN][1000 genomes]
rs4244700	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4244701	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4244702	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4244703	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4244704	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4244705	0.83[ASN][1000 genomes]
rs4263323	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4267674	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4267675	0.80[AMR][1000 genomes]
rs4269109	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4286453	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4289378	1.00[ASN][1000 genomes]
rs4293735	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4301044	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4308313	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4309762	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4309763	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4317135	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4328835	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340738	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4353834	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4359843	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4367101	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4377512	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4378999	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4390967	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4422345	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4438692	0.82[ASN][1000 genomes]
rs4444745	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4446244	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4453876	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4464493	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4465974	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4478114	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4487270	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4488874	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4491946	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4505743	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4507294	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4511930	0.83[ASN][1000 genomes]
rs4511931	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4511933	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4528983	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4530566	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4532165	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4541436	0.85[ASN][1000 genomes]
rs4549311	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4557193	0.85[ASN][1000 genomes]
rs4568176	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4568177	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4574329	0.85[ASN][1000 genomes]
rs4582086	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4586853	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4589968	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4596182	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4613496	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4615113	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4639007	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4927957	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4927958	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927959	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4927960	0.90[ASN][1000 genomes]
rs4927964	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4927965	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4927967	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4927971	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4927972	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4927976	0.90[ASN][1000 genomes]
rs4927977	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4927978	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4927979	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4927980	0.90[ASN][1000 genomes]
rs4927982	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4927983	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4927984	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4927986	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6445393	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6445455	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6445551	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6445600	0.85[ASN][1000 genomes]
rs6445603	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6445717	0.85[ASN][1000 genomes]
rs6445750	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6445779	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6445802	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6445843	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6446011	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6446118	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6446167	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6446168	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6763136	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6767329	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6768601	0.85[ASN][1000 genomes]
rs6769957	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772664	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775483	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777719	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6779658	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6785558	0.84[ASN][1000 genomes]
rs6787773	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6793613	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6793648	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6795272	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6797368	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6799211	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6803672	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806090	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6808206	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6809080	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7610901	0.85[ASN][1000 genomes]
rs7611873	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7615291	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7619584	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7628533	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7629420	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7629433	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7630616	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630730	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639161	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7640263	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7643781	0.95[ASN][1000 genomes]
rs7644957	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7652655	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7652818	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7653451	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7653539	0.90[ASN][1000 genomes]
rs922612	0.82[EUR][1000 genomes]
rs9284887	0.85[ASN][1000 genomes]
rs9284888	0.85[ASN][1000 genomes]
rs9713241	0.85[ASN][1000 genomes]
rs9818841	0.82[ASN][1000 genomes]
rs9827072	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9828200	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9839860	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841339	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9850021	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9857727	0.90[ASN][1000 genomes]
rs9858412	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9860862	0.85[ASN][1000 genomes]
rs9864574	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9865363	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9867256	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9869123	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9871539	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9883739	0.94[EUR][1000 genomes];0.85[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	nsv491647	chr3:50856276-51245158	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7614785	TEX264	cis	Esophagus Muscularis	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51144400-51168000	Weak transcription	Brain Angular Gyrus	brain
2	chr3:51146000-51168000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:51158400-51168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:51160800-51168200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:51164200-51168600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:51164600-51168200	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:51167400-51168400	ZNF genes & repeats	Fetal Brain Female	brain
8	chr3:51167400-51169200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
9	chr3:51167600-51168400	Strong transcription	Brain Cingulate Gyrus	brain

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