Variant report

Variant	rs1283005
Chromosome Location	chr3:111609704-111609705
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: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]
rs1283006	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
2	chr3:111591600-111610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
4	chr3:111598400-111612600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:111601200-111612400	Strong transcription	NHEK	skin
6	chr3:111601600-111620400	Weak transcription	Fetal Lung	lung
7	chr3:111601800-111620600	Weak transcription	NHDF-Ad	bronchial
8	chr3:111602000-111612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:111602600-111611000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:111602600-111611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:111602600-111611400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:111603200-111610200	Strong transcription	HMEC	breast
13	chr3:111603400-111610000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:111604000-111632200	Weak transcription	Gastric	stomach
15	chr3:111604200-111609800	Weak transcription	Lung	lung
16	chr3:111604200-111611800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:111604200-111617400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:111604200-111617600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:111604400-111609800	Weak transcription	Aorta	Aorta
20	chr3:111604400-111609800	Weak transcription	Left Ventricle	heart
21	chr3:111604400-111609800	Weak transcription	Right Ventricle	heart
22	chr3:111604400-111610000	Weak transcription	Pancreas	Pancrea
23	chr3:111604400-111610800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:111604400-111611800	Weak transcription	Spleen	Spleen
25	chr3:111604400-111614600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:111604400-111614800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:111604400-111617200	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:111604400-111617400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:111604400-111618000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr3:111604400-111618200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr3:111604400-111620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:111604400-111621600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:111604400-111622000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:111604400-111625600	Weak transcription	Fetal Intestine Large	intestine
35	chr3:111604400-111629400	Weak transcription	Ovary	ovary
36	chr3:111604400-111632200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:111604600-111612200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:111604600-111617400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:111604800-111621600	Weak transcription	NHLF	lung
40	chr3:111604800-111622000	Weak transcription	Adipose Nuclei	Adipose
41	chr3:111604800-111632000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:111605000-111620400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr3:111605000-111629800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:111605200-111612000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:111605200-111617400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:111605800-111613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:111606400-111617000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:111606400-111618400	Weak transcription	Placenta	Placenta
49	chr3:111607000-111610600	Weak transcription	Osteobl	bone
50	chr3:111607600-111611000	Weak transcription	A549	lung

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