Variant report

Variant	rs73230108
Chromosome Location	chr3:111322444-111322445
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17281311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17423232	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17488681	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17488841	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73228199	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73230104	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73230106	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73230114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230118	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230122	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230126	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230140	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230146	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73230153	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73230160	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73230168	0.83[AMR][1000 genomes];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	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111299400-111328600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:111314000-111326800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:111314200-111323400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:111314200-111327200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr3:111314400-111324000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr3:111314400-111328600	Weak transcription	Thymus	Thymus
7	chr3:111314800-111323000	Weak transcription	NHEK	skin
8	chr3:111315400-111322600	Strong transcription	Dnd41	blood
9	chr3:111315600-111323400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:111317600-111323000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:111317800-111322800	Weak transcription	Osteobl	bone
12	chr3:111317800-111326000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:111318600-111326800	Strong transcription	Primary T cells from cord blood	blood
14	chr3:111318800-111323200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr3:111319000-111322600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr3:111320800-111322800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:111321000-111323000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:111321000-111323200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:111321200-111322600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:111321600-111325200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr3:111321600-111326200	Strong transcription	Fetal Thymus	thymus
22	chr3:111321600-111328200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:111321800-111322800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:111322000-111323200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:111322000-111324000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:111322200-111323600	Enhancers	Primary B cells from cord blood	blood
27	chr3:111322200-111323600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr3:111322200-111323800	Enhancers	Primary B cells from peripheral blood	blood
29	chr3:111322400-111325200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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