Variant report

Variant	rs1283006
Chromosome Location	chr3:111608358-111608359
allele	C/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:21)

rs_ID	r²[population]
rs1027567	1.00[AMR][1000 genomes]
rs1282940	1.00[AMR][1000 genomes]
rs1282943	1.00[AMR][1000 genomes]
rs1282952	1.00[AMR][1000 genomes]
rs1282953	1.00[AMR][1000 genomes]
rs1282954	1.00[AMR][1000 genomes]
rs1282959	1.00[AMR][1000 genomes]
rs1282962	1.00[AMR][1000 genomes]
rs1282966	1.00[AMR][1000 genomes]
rs1282968	1.00[AMR][1000 genomes]
rs1283005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283012	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2936820	1.00[AMR][1000 genomes]
rs2943232	0.97[AFR][1000 genomes]
rs712511	1.00[AMR][1000 genomes]
rs712513	1.00[AMR][1000 genomes]
rs72938268	0.94[AFR][1000 genomes]
rs774766	1.00[AMR][1000 genomes]
rs904636	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829676	chr3:111464087-111619200	Genic enhancers Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
2	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
3	chr3:111591600-111610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
5	chr3:111593600-111608800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:111598400-111612600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:111601200-111612400	Strong transcription	NHEK	skin
8	chr3:111601600-111620400	Weak transcription	Fetal Lung	lung
9	chr3:111601800-111620600	Weak transcription	NHDF-Ad	bronchial
10	chr3:111602000-111612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:111602600-111611000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:111602600-111611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:111602600-111611400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:111603200-111610200	Strong transcription	HMEC	breast
15	chr3:111603400-111609400	Strong transcription	HSMM	muscle
16	chr3:111603400-111610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:111604000-111632200	Weak transcription	Gastric	stomach
18	chr3:111604200-111609800	Weak transcription	Lung	lung
19	chr3:111604200-111611800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:111604200-111617400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:111604200-111617600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr3:111604400-111609400	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:111604400-111609800	Weak transcription	Aorta	Aorta
24	chr3:111604400-111609800	Weak transcription	Left Ventricle	heart
25	chr3:111604400-111609800	Weak transcription	Right Ventricle	heart
26	chr3:111604400-111610000	Weak transcription	Pancreas	Pancrea
27	chr3:111604400-111610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:111604400-111611800	Weak transcription	Spleen	Spleen
29	chr3:111604400-111614600	Weak transcription	Fetal Intestine Small	intestine
30	chr3:111604400-111614800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:111604400-111617200	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:111604400-111617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:111604400-111618000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr3:111604400-111618200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr3:111604400-111620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:111604400-111621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:111604400-111622000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:111604400-111625600	Weak transcription	Fetal Intestine Large	intestine
39	chr3:111604400-111629400	Weak transcription	Ovary	ovary
40	chr3:111604400-111632200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:111604600-111612200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:111604600-111617400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:111604800-111621600	Weak transcription	NHLF	lung
44	chr3:111604800-111622000	Weak transcription	Adipose Nuclei	Adipose
45	chr3:111604800-111632000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:111605000-111620400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr3:111605000-111629800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:111605200-111612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr3:111605200-111617400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:111605400-111609000	Weak transcription	Stomach Smooth Muscle	stomach

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