Variant report

Variant	rs1283012
Chromosome Location	chr3:111596293-111596294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283006	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1283010	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2936820	1.00[AMR][1000 genomes]
rs2943232	0.89[AFR][1000 genomes]
rs712511	1.00[AMR][1000 genomes]
rs712513	1.00[AMR][1000 genomes]
rs72938268	0.87[AFR][1000 genomes]
rs774766	1.00[AMR][1000 genomes]
rs904636	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv980070	chr3:111592547-111602240	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111584600-111603400	Weak transcription	Fetal Intestine Large	intestine
2	chr3:111585200-111622000	Weak transcription	HSMMtube	muscle
3	chr3:111585400-111603400	Weak transcription	Spleen	Spleen
4	chr3:111585400-111609000	Weak transcription	Esophagus	oesophagus
5	chr3:111587200-111597200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:111587200-111603000	Weak transcription	Placenta	Placenta
7	chr3:111587800-111599200	Weak transcription	Liver	Liver
8	chr3:111589200-111598400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:111589200-111603400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:111589800-111603400	Weak transcription	Pancreas	Pancrea
11	chr3:111591400-111598400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr3:111591600-111598400	Weak transcription	Right Atrium	heart
13	chr3:111591600-111603200	Weak transcription	Ovary	ovary
14	chr3:111591600-111603600	Weak transcription	HepG2	liver
15	chr3:111591600-111610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:111591600-111633200	Weak transcription	Fetal Kidney	kidney
17	chr3:111593400-111599600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:111593400-111601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr3:111593600-111598200	Weak transcription	Adipose Nuclei	Adipose
20	chr3:111593600-111598800	Weak transcription	Aorta	Aorta
21	chr3:111593600-111599000	Weak transcription	Left Ventricle	heart
22	chr3:111593600-111599200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:111593600-111601400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:111593600-111603000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr3:111593600-111603000	Weak transcription	Lung	lung
26	chr3:111593600-111603200	Weak transcription	Gastric	stomach
27	chr3:111593600-111603400	Weak transcription	HSMM	muscle
28	chr3:111593600-111608800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:111593800-111598800	Weak transcription	Hela-S3	cervix
30	chr3:111593800-111599000	Weak transcription	A549	lung
31	chr3:111593800-111599000	Weak transcription	NH-A	brain
32	chr3:111593800-111599200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:111593800-111601200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:111593800-111602000	Weak transcription	HUVEC	blood vessel
35	chr3:111593800-111602800	Weak transcription	NHLF	lung
36	chr3:111593800-111603000	Weak transcription	Fetal Stomach	stomach
37	chr3:111593800-111603200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr3:111593800-111603400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr3:111594000-111598600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:111594000-111603400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr3:111594400-111603200	Weak transcription	HMEC	breast
42	chr3:111595200-111598200	Weak transcription	Right Ventricle	heart
43	chr3:111595200-111601200	Weak transcription	NHEK	skin
44	chr3:111595400-111601200	Weak transcription	Osteobl	bone
45	chr3:111595400-111602600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:111595600-111598200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:111595800-111598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:111595800-111599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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