Variant report

Variant	rs73230118
Chromosome Location	chr3:111330136-111330137
allele	A/G
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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17423232	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17488681	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17488841	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73228199	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73230104	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73230106	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73230108	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230153	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230160	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73230168	0.83[AMR][1000 genomes];0.89[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	chr3:111324400-111336800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:111326200-111330600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:111328200-111330200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr3:111328400-111330400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr3:111328600-111330200	Enhancers	Primary B cells from cord blood	blood
6	chr3:111329200-111330200	Enhancers	Thymus	Thymus
7	chr3:111329400-111330200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr3:111329400-111330600	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:111329600-111330600	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr3:111329600-111330800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:111329600-111330800	Enhancers	HMEC	breast
12	chr3:111329600-111331000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:111329800-111330200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:111329800-111330200	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr3:111329800-111330200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr3:111329800-111330200	Flanking Active TSS	NHEK	skin
17	chr3:111329800-111330600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:111329800-111330600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr3:111329800-111330800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr3:111329800-111331000	Genic enhancers	Primary T cells from cord blood	blood
21	chr3:111329800-111331000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:111329800-111331000	Genic enhancers	Fetal Thymus	thymus
23	chr3:111329800-111331200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr3:111329800-111333600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:111330000-111330200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr3:111330000-111330800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr3:111330000-111330800	Genic enhancers	Dnd41	blood
28	chr3:111330000-111331000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr3:111330000-111334200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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