Variant report

Variant	rs2132144
Chromosome Location	chr3:23356862-23356863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1027380	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11707450	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11708040	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11712500	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11712582	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11713392	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11715035	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1390084	0.85[ASN][1000 genomes]
rs1692619	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1695180	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1695205	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17342980	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17401836	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17402378	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1874234	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874502	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1874503	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1994953	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2036044	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2047339	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2055155	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2055156	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2055157	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2101811	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2132146	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2132148	0.86[ASN][1000 genomes]
rs2173057	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2201484	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2359754	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3104242	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35194124	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35613382	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4334589	0.83[EUR][1000 genomes]
rs4578972	0.84[AMR][1000 genomes]
rs4858063	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858068	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4858070	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858487	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858489	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858490	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4858495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858499	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4858507	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5023615	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59185768	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62252657	0.82[AMR][1000 genomes]
rs62255292	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62255293	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6550759	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6550760	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6765758	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6774214	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6780388	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6790327	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6799132	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6801824	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs704535	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71615357	0.85[ASN][1000 genomes]
rs73138453	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7621680	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7629327	0.87[EUR][1000 genomes]
rs7636532	0.85[AFR][1000 genomes]
rs7637485	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7643705	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7648425	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7653868	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs778457	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs778458	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs778463	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs778469	0.87[EUR][1000 genomes]
rs778492	0.83[EUR][1000 genomes]
rs778497	0.82[EUR][1000 genomes]
rs778502	0.82[EUR][1000 genomes]
rs903520	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs923996	0.81[ASN][1000 genomes]
rs931609	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9757330	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9758590	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9815299	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9823684	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9836135	0.94[ASN][1000 genomes]
rs9840808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841336	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9848331	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs9848389	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9849679	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863465	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9875910	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv589948	chr3:23287141-23390221	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1004417	chr3:23318797-23389422	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23337600-23358400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:23345800-23358600	Weak transcription	Fetal Stomach	stomach
3	chr3:23347000-23357200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:23349200-23357800	Weak transcription	Lung	lung
5	chr3:23350600-23366400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:23350800-23362600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:23351000-23362400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:23353400-23358400	Enhancers	HSMMtube	muscle
9	chr3:23353600-23357800	Enhancers	HSMM	muscle
10	chr3:23353800-23362800	Weak transcription	Left Ventricle	heart
11	chr3:23354000-23357600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:23354200-23357000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:23354800-23357200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr3:23355200-23365400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:23355600-23357400	Enhancers	Thymus	Thymus
16	chr3:23355800-23358400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:23355800-23362800	Weak transcription	Esophagus	oesophagus
18	chr3:23355800-23366000	Weak transcription	Ovary	ovary
19	chr3:23356000-23357400	Weak transcription	Right Atrium	heart
20	chr3:23356200-23357200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:23356200-23357400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:23356400-23357000	Enhancers	Brain Angular Gyrus	brain
23	chr3:23356400-23357400	Enhancers	Osteobl	bone
24	chr3:23356400-23358400	Enhancers	Adipose Nuclei	Adipose
25	chr3:23356400-23358800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:23356600-23357000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:23356600-23357400	Enhancers	Brain Hippocampus Middle	brain
28	chr3:23356600-23357400	Enhancers	NH-A	brain
29	chr3:23356600-23357600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:23356800-23357200	Weak transcription	Psoas Muscle	Psoas
31	chr3:23356800-23357600	Enhancers	Brain Substantia Nigra	brain
32	chr3:23356800-23361400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:23356800-23365400	Weak transcription	Brain Anterior Caudate	brain
34	chr3:23356800-23367600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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