Variant report

Variant	rs62255293
Chromosome Location	chr3:23283812-23283813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11707094	0.85[ASN][1000 genomes]
rs11707450	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11708040	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11712500	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11712582	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11713392	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11715035	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17342980	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17401836	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17402378	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1874234	0.82[ASN][1000 genomes]
rs1874503	0.81[ASN][1000 genomes]
rs1994953	0.82[ASN][1000 genomes]
rs2055156	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2055157	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2101811	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132144	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2132146	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132148	0.93[ASN][1000 genomes]
rs2201484	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2359754	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35194124	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35613382	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4334589	0.86[AFR][1000 genomes]
rs4858063	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4858487	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858489	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858490	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858495	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4858499	0.85[ASN][1000 genomes]
rs5023615	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59185768	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62252657	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62255292	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6774214	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6790327	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7621680	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7653868	0.82[ASN][1000 genomes]
rs903520	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs923996	0.88[ASN][1000 genomes]
rs9815299	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9823684	0.87[ASN][1000 genomes]
rs9836135	0.87[ASN][1000 genomes]
rs9840808	0.81[ASN][1000 genomes]
rs9841336	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9848389	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9849679	0.81[ASN][1000 genomes]
rs9863465	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9875910	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[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:24 , 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	chr3:23280800-23285000	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:23281400-23298200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:23282000-23290200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:23282200-23284000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:23282200-23285800	Weak transcription	Liver	Liver
10	chr3:23282200-23289000	Weak transcription	Adipose Nuclei	Adipose
11	chr3:23282200-23294600	Weak transcription	A549	lung
12	chr3:23282400-23286000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:23282600-23284400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:23283000-23284000	Enhancers	Brain Substantia Nigra	brain
15	chr3:23283000-23284400	Enhancers	HMEC	breast
16	chr3:23283000-23284800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:23283000-23286800	Enhancers	Brain Hippocampus Middle	brain
18	chr3:23283200-23284000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:23283200-23284200	Enhancers	NHEK	skin
20	chr3:23283200-23296000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr3:23283600-23284800	Weak transcription	Brain Anterior Caudate	brain
22	chr3:23283600-23286000	Weak transcription	Brain Angular Gyrus	brain
23	chr3:23283600-23302200	Weak transcription	Left Ventricle	heart
24	chr3:23283800-23292000	Weak transcription	Brain Inferior Temporal Lobe	brain

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