Variant report

Variant	rs4858064
Chromosome Location	chr3:23283279-23283280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1013460	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1027379	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11129113	0.84[ASN][1000 genomes]
rs11129116	0.83[ASN][1000 genomes]
rs11708117	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11708176	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11717397	0.86[ASN][1000 genomes]
rs11720461	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11920019	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12330262	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12330479	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12493361	0.85[ASN][1000 genomes]
rs12496983	0.86[ASN][1000 genomes]
rs12497974	0.81[ASN][1000 genomes]
rs12629848	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13074192	0.84[ASN][1000 genomes]
rs13080261	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13080401	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13081371	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1495131	0.83[ASN][1000 genomes]
rs1532355	0.81[ASN][1000 genomes]
rs1552930	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17012812	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17012869	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1973400	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2055154	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2172828	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34919006	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4241511	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4241512	0.83[ASN][1000 genomes]
rs4488778	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4858062	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858483	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4858484	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4858491	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4858492	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4858496	0.81[ASN][1000 genomes]
rs4858497	0.81[ASN][1000 genomes]
rs4858500	0.83[ASN][1000 genomes]
rs4858501	0.83[ASN][1000 genomes]
rs4858502	0.82[ASN][1000 genomes]
rs4858504	0.84[ASN][1000 genomes]
rs4858509	0.82[ASN][1000 genomes]
rs59429714	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6550746	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6550748	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6784771	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6795492	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6804123	0.80[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6805889	0.83[ASN][1000 genomes]
rs7429470	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617072	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7622784	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9310715	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9809176	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9816895	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9821101	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9822422	0.83[ASN][1000 genomes]
rs9826877	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9836787	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9839738	0.84[ASN][1000 genomes]
rs9841123	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9841944	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9846398	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9847027	0.85[ASN][1000 genomes]
rs9847958	0.85[ASN][1000 genomes]
rs9848077	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9849176	0.84[ASN][1000 genomes]
rs9853489	0.86[ASN][1000 genomes]
rs9854148	0.83[ASN][1000 genomes]
rs9854590	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861803	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9864908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9865602	0.88[ASN][1000 genomes]
rs9874082	0.83[ASN][1000 genomes]
rs9874822	0.87[AFR][1000 genomes];0.83[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	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1014701	chr3:23257658-23416094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv589947	chr3:23277838-23403943	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23274800-23298200	Weak transcription	Aorta	Aorta
2	chr3:23278600-23289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:23280200-23291400	Weak transcription	Psoas Muscle	Psoas
4	chr3:23280400-23290600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr3:23280800-23283600	Enhancers	Brain Anterior Caudate	brain
6	chr3:23280800-23285000	Enhancers	Brain Cingulate Gyrus	brain
7	chr3:23281400-23298200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:23282000-23290200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr3:23282200-23284000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr3:23282200-23285800	Weak transcription	Liver	Liver
11	chr3:23282200-23289000	Weak transcription	Adipose Nuclei	Adipose
12	chr3:23282200-23294600	Weak transcription	A549	lung
13	chr3:23282400-23286000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:23282600-23284400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:23282800-23283400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr3:23283000-23283600	Enhancers	Left Ventricle	heart
17	chr3:23283000-23283800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:23283000-23284000	Enhancers	Brain Substantia Nigra	brain
19	chr3:23283000-23284400	Enhancers	HMEC	breast
20	chr3:23283000-23284800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr3:23283000-23286800	Enhancers	Brain Hippocampus Middle	brain
22	chr3:23283200-23283400	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr3:23283200-23284000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:23283200-23284200	Enhancers	NHEK	skin
25	chr3:23283200-23296000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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