Variant report

Variant	rs13072788
Chromosome Location	chr3:100738212-100738213
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100738176..100740012-chr3:100741389..100744208,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1036467	0.82[EUR][1000 genomes]
rs10511181	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13059867	0.87[AMR][1000 genomes]
rs13060137	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13060166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13074729	0.82[AMR][1000 genomes]
rs13077353	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13080859	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13088524	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13091757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13100301	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17284842	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17398421	0.91[EUR][1000 genomes]
rs17398684	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17399603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2576377	0.80[AMR][1000 genomes]
rs2576382	0.85[EUR][1000 genomes]
rs2576391	0.89[EUR][1000 genomes]
rs2595893	0.89[EUR][1000 genomes]
rs2595894	0.89[EUR][1000 genomes]
rs2713748	0.80[AMR][1000 genomes]
rs2713764	0.85[EUR][1000 genomes]
rs2713786	0.89[EUR][1000 genomes]
rs34275644	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34315591	0.94[AMR][1000 genomes]
rs34515751	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34565718	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34645172	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34719725	0.91[EUR][1000 genomes]
rs34897295	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35509049	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35517882	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35530876	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35617051	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35630894	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35974360	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36156426	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36194526	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41386544	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62273925	0.82[EUR][1000 genomes]
rs62273927	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62273928	0.97[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62273930	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62273935	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62275197	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62275198	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62275199	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62275200	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62275203	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62275204	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62275770	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62275773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62275774	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62275825	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62275826	0.87[AMR][1000 genomes]
rs66852780	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67946790	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73143088	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7431835	0.82[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	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
4	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100730000-100745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:100736200-100739400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:100736200-100744800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:100736400-100738800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:100736600-100738800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:100736600-100739000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:100737600-100738600	Weak transcription	Osteobl	bone
8	chr3:100737800-100740200	Enhancers	NHDF-Ad	bronchial

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