Variant report

Variant	rs34645172
Chromosome Location	chr3:100709735-100709736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1036467	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10511181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13059867	0.81[AMR][1000 genomes]
rs13060137	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13060166	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13072000	0.82[EUR][1000 genomes]
rs13072788	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13077353	0.85[EUR][1000 genomes]
rs13079002	0.82[EUR][1000 genomes]
rs13080859	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13088524	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13091757	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13099053	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13100301	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17284842	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17338506	1.00[AFR][1000 genomes]
rs17398421	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17398684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17399603	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2245473	0.82[EUR][1000 genomes]
rs2576372	0.83[EUR][1000 genomes]
rs2576377	0.83[EUR][1000 genomes]
rs2576382	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2576387	0.82[EUR][1000 genomes]
rs2576391	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2595893	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2595894	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2713748	0.81[EUR][1000 genomes]
rs2713764	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2713782	0.82[EUR][1000 genomes]
rs2713786	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34275644	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34315591	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34515751	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34565718	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34719725	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34897295	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34999788	1.00[AFR][1000 genomes]
rs35509049	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35517882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35530876	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35617051	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35630894	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35974360	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs36156426	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36194526	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41273553	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs41386544	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4928096	0.82[EUR][1000 genomes]
rs62273925	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62273927	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62273928	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62273930	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62273935	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62275197	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62275198	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62275199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62275200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62275203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62275204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62275770	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62275773	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62275774	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62275825	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62275826	0.81[AMR][1000 genomes]
rs62277105	1.00[AFR][1000 genomes]
rs66852780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67946790	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67991823	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73137256	1.00[AFR][1000 genomes]
rs73137276	1.00[AFR][1000 genomes]
rs73143088	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7431835	0.85[EUR][1000 genomes]
rs9840644	0.80[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100692600-100711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:100700400-100711200	Weak transcription	Esophagus	oesophagus
3	chr3:100701800-100711000	Weak transcription	Aorta	Aorta
4	chr3:100702000-100710200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:100702000-100710800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:100702200-100709800	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:100702200-100711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:100702400-100710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:100707200-100711200	Weak transcription	Gastric	stomach
10	chr3:100707200-100711200	Weak transcription	Lung	lung
11	chr3:100708600-100710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:100708600-100711000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:100708800-100710200	Enhancers	Rectal Smooth Muscle	rectum
14	chr3:100708800-100710600	Weak transcription	NHEK	skin
15	chr3:100709000-100712600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:100709200-100710200	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:100709200-100713000	Active TSS	Stomach Smooth Muscle	stomach
18	chr3:100709600-100709800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:100709600-100709800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:100709600-100709800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr3:100709600-100709800	Flanking Active TSS	Fetal Stomach	stomach
22	chr3:100709600-100709800	Flanking Active TSS	NHDF-Ad	bronchial
23	chr3:100709600-100709800	Flanking Active TSS	Osteobl	bone
24	chr3:100709600-100710600	Enhancers	Ovary	ovary
25	chr3:100709600-100711600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:100709600-100712400	Active TSS	HSMMtube	muscle

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