Variant report

Variant	rs62273927
Chromosome Location	chr3:100648440-100648441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1036467	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10511181	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13059867	0.84[AMR][1000 genomes]
rs13060137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13060166	0.97[AMR][1000 genomes]
rs13072000	0.92[EUR][1000 genomes]
rs13072788	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13077353	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13079002	0.92[EUR][1000 genomes]
rs13080859	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13088524	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13091757	0.97[AMR][1000 genomes]
rs13092605	0.91[EUR][1000 genomes]
rs13099053	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs13100301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17284842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17338506	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17398421	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17398684	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17399603	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2245266	0.91[EUR][1000 genomes]
rs2245473	0.92[EUR][1000 genomes]
rs2245556	0.91[EUR][1000 genomes]
rs2576365	0.91[EUR][1000 genomes]
rs2576369	0.91[EUR][1000 genomes]
rs2576372	0.94[EUR][1000 genomes]
rs2576377	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2576382	0.92[EUR][1000 genomes]
rs2576387	0.92[EUR][1000 genomes]
rs2576391	0.89[EUR][1000 genomes]
rs2595893	0.89[EUR][1000 genomes]
rs2595894	0.89[EUR][1000 genomes]
rs2713748	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2713764	0.92[EUR][1000 genomes]
rs2713782	0.92[EUR][1000 genomes]
rs2713786	0.89[EUR][1000 genomes]
rs2713787	0.91[EUR][1000 genomes]
rs2713788	0.87[EUR][1000 genomes]
rs2713789	0.91[EUR][1000 genomes]
rs2713793	0.91[EUR][1000 genomes]
rs34275644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34315591	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34515751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34565718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34645172	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34719725	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34897295	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34999788	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35509049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35517882	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35530876	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35617051	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35630894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35974360	0.84[AMR][1000 genomes]
rs35999953	0.91[EUR][1000 genomes]
rs36156426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36165056	0.91[EUR][1000 genomes]
rs36194526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4060963	0.91[EUR][1000 genomes]
rs41273553	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs41386544	0.84[AMR][1000 genomes]
rs4928096	0.92[EUR][1000 genomes]
rs62273925	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62273928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62273930	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62273935	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62275197	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62275198	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62275199	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62275200	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62275203	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62275204	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62275770	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62275773	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62275774	0.84[AMR][1000 genomes]
rs62275825	0.84[AMR][1000 genomes]
rs62275826	0.84[AMR][1000 genomes]
rs62277105	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs66852780	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67946790	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67991823	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs73137256	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73137276	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73143088	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7431835	0.96[EUR][1000 genomes]
rs9832195	0.91[EUR][1000 genomes]
rs9840644	0.91[EUR][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	nsv514163	chr3:100547342-100670846	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100630200-100673600	Weak transcription	Ovary	ovary
2	chr3:100637600-100660000	Weak transcription	HSMMtube	muscle
3	chr3:100641600-100659400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:100646600-100648800	Enhancers	NHLF	lung
5	chr3:100646600-100659400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:100646800-100648600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr3:100647000-100648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:100647400-100657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:100647600-100648600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:100647600-100648600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:100648200-100648800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:100648400-100648800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:100648400-100648800	Enhancers	NHDF-Ad	bronchial
14	chr3:100648400-100650200	Enhancers	Osteobl	bone

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