Variant report

Variant	rs62275197
Chromosome Location	chr3:100683147-100683148
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100678632..100680871-chr3:100682682..100684359,2	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1036467	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10511181	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13060137	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13060166	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13072000	0.87[EUR][1000 genomes]
rs13072788	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13077353	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13079002	0.87[EUR][1000 genomes]
rs13080859	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13088524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13091757	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13092605	0.85[EUR][1000 genomes]
rs13099053	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13100301	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17284842	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17338506	1.00[AFR][1000 genomes]
rs17398421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17398684	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17399603	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2245266	0.85[EUR][1000 genomes]
rs2245473	0.87[EUR][1000 genomes]
rs2245556	0.85[EUR][1000 genomes]
rs2576365	0.85[EUR][1000 genomes]
rs2576369	0.85[EUR][1000 genomes]
rs2576372	0.89[EUR][1000 genomes]
rs2576377	0.89[EUR][1000 genomes]
rs2576382	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2576387	0.87[EUR][1000 genomes]
rs2576391	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2595893	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2595894	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2713748	0.86[EUR][1000 genomes]
rs2713764	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2713782	0.87[EUR][1000 genomes]
rs2713786	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2713787	0.85[EUR][1000 genomes]
rs2713788	0.82[EUR][1000 genomes]
rs2713789	0.85[EUR][1000 genomes]
rs2713793	0.85[EUR][1000 genomes]
rs34275644	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34315591	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34515751	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34565718	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34645172	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34719725	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34897295	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34999788	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35509049	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35517882	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35530876	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35617051	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35630894	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35974360	0.86[EUR][1000 genomes]
rs35999953	0.85[EUR][1000 genomes]
rs36156426	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36165056	0.85[EUR][1000 genomes]
rs36194526	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4060963	0.85[EUR][1000 genomes]
rs41273553	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs41386544	0.86[EUR][1000 genomes]
rs4928096	0.87[EUR][1000 genomes]
rs62273925	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62273927	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62273928	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62273930	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62273935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62275198	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62275199	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62275200	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62275203	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62275204	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62275770	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62275773	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62275774	0.85[EUR][1000 genomes]
rs62275825	0.86[EUR][1000 genomes]
rs62277105	1.00[AFR][1000 genomes]
rs66852780	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67946790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67991823	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs73137256	1.00[AFR][1000 genomes]
rs73137276	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs73143088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7431835	0.90[EUR][1000 genomes]
rs9832195	0.85[EUR][1000 genomes]
rs9840644	0.85[EUR][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	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
2	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
3	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100674200-100687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100674200-100688000	Weak transcription	Ovary	ovary
3	chr3:100674400-100684600	Weak transcription	Fetal Stomach	stomach
4	chr3:100676800-100687800	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:100679200-100690200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:100679800-100685400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:100681600-100684000	Weak transcription	HSMMtube	muscle
8	chr3:100682600-100683800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:100682800-100691600	Weak transcription	Osteobl	bone
10	chr3:100683000-100683200	Enhancers	Fetal Muscle Leg	muscle

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