Variant report

Variant	rs8069772
Chromosome Location	chr17:16467980-16467981
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1006561	1.00[EUR][1000 genomes]
rs16959784	1.00[EUR][1000 genomes]
rs16959831	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16959832	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16959834	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs16959849	1.00[EUR][1000 genomes]
rs28375510	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375681	1.00[EUR][1000 genomes]
rs28481713	1.00[EUR][1000 genomes]
rs28482815	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57062804	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57088651	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57432974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502511	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502512	0.86[YRI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211497	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212777	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214389	1.00[EUR][1000 genomes]
rs7218171	1.00[EUR][1000 genomes]
rs7218177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7220797	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7220867	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7221073	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7222107	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282666	1.00[EUR][1000 genomes]
rs73282673	1.00[EUR][1000 genomes]
rs73282675	1.00[EUR][1000 genomes]
rs73282678	1.00[EUR][1000 genomes]
rs73980200	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066377	1.00[EUR][1000 genomes]
rs8068846	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9890785	1.00[EUR][1000 genomes]
rs9899370	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900136	1.00[EUR][1000 genomes]
rs9900601	1.00[EUR][1000 genomes]
rs9902632	1.00[EUR][1000 genomes]
rs9912467	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912759	1.00[EUR][1000 genomes]
rs9916250	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16455000-16471200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:16455400-16468600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:16458800-16471600	Weak transcription	HUVEC	blood vessel
4	chr17:16459600-16471800	Weak transcription	Stomach Mucosa	stomach
5	chr17:16460800-16468200	Strong transcription	Skeletal Muscle Male	skeletal muscle
6	chr17:16461200-16471800	Weak transcription	Gastric	stomach
7	chr17:16461800-16468200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:16462200-16470800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:16462200-16471800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:16462200-16471800	Weak transcription	Esophagus	oesophagus
11	chr17:16462200-16471800	Weak transcription	Pancreas	Pancrea
12	chr17:16463200-16468400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:16463200-16470800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:16463200-16471200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:16463200-16471600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr17:16463400-16470800	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr17:16463400-16471000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:16463400-16471200	Weak transcription	Fetal Kidney	kidney
19	chr17:16463800-16471000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:16464000-16468000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:16464000-16468200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:16464000-16469800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:16464000-16471000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr17:16464000-16471200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:16464400-16468000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr17:16464400-16468000	Strong transcription	Dnd41	blood
27	chr17:16464400-16469400	Strong transcription	Fetal Brain Female	brain
28	chr17:16464400-16469800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr17:16464400-16470000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr17:16464400-16470200	Strong transcription	Brain Anterior Caudate	brain
31	chr17:16464400-16471400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:16464600-16468000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:16464600-16468000	Strong transcription	NHDF-Ad	bronchial
34	chr17:16464600-16468200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:16464600-16470000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:16464600-16471800	Weak transcription	Lung	lung
37	chr17:16464800-16468000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:16465000-16468600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr17:16465000-16471600	Weak transcription	HMEC	breast
40	chr17:16465200-16471600	Weak transcription	Fetal Heart	heart
41	chr17:16465600-16470600	Strong transcription	Left Ventricle	heart
42	chr17:16466200-16468400	Strong transcription	Aorta	Aorta
43	chr17:16466200-16470800	Strong transcription	Fetal Muscle Leg	muscle
44	chr17:16466400-16468000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr17:16466600-16469200	Strong transcription	Fetal Intestine Small	intestine
46	chr17:16466600-16471000	Strong transcription	Fetal Stomach	stomach
47	chr17:16466600-16471600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:16466800-16469000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:16466800-16471600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:16466800-16471600	Weak transcription	NHEK	skin

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