Variant report

Variant	rs17281311
Chromosome Location	chr3:111324465-111324466
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10934102	1.00[YRI][hapmap]
rs17423232	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17488681	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17488841	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1877575	1.00[YRI][hapmap]
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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73230114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230146	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230153	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73230160	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17281311	ZNF80	cis	parietal	SCAN

Chromatin state (count:30 , 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	chr3:111314200-111327200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr3:111314400-111328600	Weak transcription	Thymus	Thymus
5	chr3:111317800-111326000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr3:111318600-111326800	Strong transcription	Primary T cells from cord blood	blood
7	chr3:111321600-111325200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr3:111321600-111326200	Strong transcription	Fetal Thymus	thymus
9	chr3:111321600-111328200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
10	chr3:111322400-111325200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr3:111322600-111326600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:111322800-111324800	Enhancers	Osteobl	bone
13	chr3:111323200-111324800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:111323200-111324800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:111323200-111327000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr3:111323400-111325200	Strong transcription	Dnd41	blood
17	chr3:111323600-111326200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:111323600-111326600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr3:111323600-111328600	Weak transcription	Primary B cells from cord blood	blood
20	chr3:111323800-111328400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:111324000-111324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:111324000-111326200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:111324200-111326400	Weak transcription	HMEC	breast
24	chr3:111324200-111326800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:111324200-111326800	Weak transcription	NHEK	skin
26	chr3:111324200-111327000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:111324200-111327800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:111324400-111324600	Enhancers	Gastric	stomach
29	chr3:111324400-111325000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:111324400-111336800	Weak transcription	Muscle Satellite Cultured Cells	--

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