Variant report

Variant	rs28709269
Chromosome Location	chr16:82044196-82044197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11859929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861598	0.86[AFR][1000 genomes]
rs11862886	0.90[AFR][1000 genomes]
rs12102588	1.00[EUR][1000 genomes]
rs13331078	1.00[EUR][1000 genomes]
rs13333401	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338881	1.00[EUR][1000 genomes]
rs16956212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956238	0.84[AFR][1000 genomes]
rs28435702	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28593579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666081	1.00[EUR][1000 genomes]
rs28676286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4399528	0.83[AMR][1000 genomes]
rs7187542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7194931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203187	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203196	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7203437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926471	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9926701	0.86[AFR][1000 genomes]
rs9937619	1.00[EUR][1000 genomes]
rs9941115	0.83[AMR][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	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82027400-82044200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:82030600-82044200	Weak transcription	Small Intestine	intestine
3	chr16:82031000-82044400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:82032000-82044400	Weak transcription	Colon Smooth Muscle	Colon
5	chr16:82032000-82044400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr16:82032400-82044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:82033800-82044200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:82034000-82044200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:82034000-82044400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr16:82034800-82044200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr16:82034800-82044200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr16:82042200-82044200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:82043000-82044400	Weak transcription	Colonic Mucosa	Colon
14	chr16:82043000-82044400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:82043200-82044200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr16:82043200-82044200	Weak transcription	Esophagus	oesophagus
17	chr16:82043200-82044200	Weak transcription	Fetal Thymus	thymus
18	chr16:82043200-82044200	Weak transcription	Gastric	stomach
19	chr16:82043200-82044200	Weak transcription	Thymus	Thymus
20	chr16:82043200-82044400	Weak transcription	Fetal Stomach	stomach
21	chr16:82043200-82044400	Weak transcription	A549	lung
22	chr16:82043200-82044600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr16:82043200-82044800	Weak transcription	Aorta	Aorta
24	chr16:82043200-82045000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr16:82043800-82044200	Active TSS	Duodenum Mucosa	Duodenum
26	chr16:82043800-82044200	Enhancers	Pancreas	Pancrea
27	chr16:82043800-82044400	Enhancers	Primary T cells from cord blood	blood
28	chr16:82043800-82044400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr16:82043800-82044400	Flanking Active TSS	HMEC	breast
30	chr16:82044000-82044200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:82044000-82044200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr16:82044000-82044200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr16:82044000-82044200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:82044000-82044200	Enhancers	Liver	Liver
35	chr16:82044000-82044200	Weak transcription	Fetal Intestine Large	intestine
36	chr16:82044000-82044200	Enhancers	Fetal Kidney	kidney
37	chr16:82044000-82044400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr16:82044000-82044400	Active TSS	Primary hematopoietic stem cells	blood
39	chr16:82044000-82044400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:82044000-82044400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr16:82044000-82044400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr16:82044000-82044400	Flanking Active TSS	NHEK	skin
43	chr16:82044000-82044600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr16:82044000-82044600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:82044000-82044800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr16:82044000-82045400	Active TSS	Fetal Intestine Small	intestine

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