Variant report

Variant	rs8062306
Chromosome Location	chr16:12334569-12334570
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10163343	1.00[AMR][1000 genomes]
rs11075060	1.00[AMR][1000 genomes]
rs13380428	1.00[AMR][1000 genomes]
rs13380604	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16959113	1.00[AMR][1000 genomes]
rs28469348	1.00[AMR][1000 genomes]
rs41469846	1.00[AMR][1000 genomes]
rs7189571	1.00[AMR][1000 genomes]
rs7195084	1.00[AMR][1000 genomes]
rs7196613	1.00[AMR][1000 genomes]
rs7197752	1.00[AMR][1000 genomes]
rs7198130	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7199914	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7204451	1.00[AMR][1000 genomes]
rs7205734	1.00[AMR][1000 genomes]
rs7206812	1.00[AMR][1000 genomes]
rs8056108	1.00[AMR][1000 genomes]
rs8058220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630618	1.00[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	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12297400-12353800	Weak transcription	Gastric	stomach
2	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:12322400-12338000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr16:12322600-12353600	Weak transcription	Lung	lung
6	chr16:12323000-12348600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:12324400-12340600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr16:12324600-12337400	Weak transcription	Fetal Intestine Small	intestine
11	chr16:12325600-12339600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:12326000-12334600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:12330000-12334800	Enhancers	Fetal Muscle Leg	muscle
14	chr16:12330600-12339600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr16:12330800-12336200	Weak transcription	Primary B cells from cord blood	blood
16	chr16:12330800-12337400	Weak transcription	Thymus	Thymus
17	chr16:12330800-12349800	Weak transcription	Primary T cells from cord blood	blood
18	chr16:12330800-12373000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:12331000-12334600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr16:12331000-12339800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:12331200-12334600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:12331200-12336800	Weak transcription	GM12878-XiMat	blood
23	chr16:12331200-12337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:12332600-12335600	Enhancers	Brain Germinal Matrix	brain
25	chr16:12332600-12335800	Enhancers	Brain Substantia Nigra	brain
26	chr16:12332800-12334800	Enhancers	Brain Hippocampus Middle	brain
27	chr16:12332800-12334800	Enhancers	Ovary	ovary
28	chr16:12332800-12335400	Enhancers	Brain Anterior Caudate	brain
29	chr16:12333000-12334600	Enhancers	Adipose Nuclei	Adipose
30	chr16:12333000-12334800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:12333000-12334800	Enhancers	NHDF-Ad	bronchial
32	chr16:12333200-12335000	Enhancers	Fetal Muscle Trunk	muscle
33	chr16:12333200-12350600	Weak transcription	Esophagus	oesophagus
34	chr16:12333200-12353200	Weak transcription	Spleen	Spleen
35	chr16:12333600-12334600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:12333800-12334600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:12333800-12334600	Enhancers	Fetal Heart	heart
38	chr16:12333800-12334800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr16:12334000-12334800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:12334000-12334800	Enhancers	Brain Angular Gyrus	brain
41	chr16:12334000-12334800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:12334000-12334800	Enhancers	Fetal Brain Male	brain
43	chr16:12334000-12334800	Enhancers	Psoas Muscle	Psoas
44	chr16:12334000-12334800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr16:12334000-12356600	Weak transcription	Right Atrium	heart
46	chr16:12334200-12334800	Enhancers	Left Ventricle	heart
47	chr16:12334200-12337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr16:12334200-12337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:12334400-12334800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:12334400-12334800	Enhancers	Pancreas	Pancrea

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