Variant report

Variant	rs58050543
Chromosome Location	chr1:85916426-85916427
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs60939986	1.00[AFR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85893800-85916800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:85901400-85923000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:85907000-85919600	Weak transcription	Right Atrium	heart
4	chr1:85909200-85916600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:85911200-85917200	Enhancers	NHDF-Ad	bronchial
6	chr1:85911800-85916600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:85912200-85917400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:85913400-85917800	Weak transcription	Fetal Kidney	kidney
9	chr1:85913800-85916600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:85913800-85916800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:85913800-85916800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:85913800-85916800	Weak transcription	Right Ventricle	heart
13	chr1:85913800-85918400	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:85913800-85918400	Weak transcription	Fetal Intestine Large	intestine
15	chr1:85913800-85920400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:85914000-85917200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:85914200-85916800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:85914200-85917800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:85914200-85924800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:85914400-85916800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:85914400-85917000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:85914400-85917200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:85914400-85918800	Weak transcription	HepG2	liver
24	chr1:85914600-85917400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:85914600-85917400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:85914600-85917600	Weak transcription	Fetal Lung	lung
27	chr1:85914800-85916800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:85915000-85919200	Weak transcription	HSMMtube	muscle
29	chr1:85915200-85918600	Weak transcription	Fetal Stomach	stomach
30	chr1:85915200-85918600	Weak transcription	Ovary	ovary
31	chr1:85915200-85918800	Weak transcription	Adipose Nuclei	Adipose
32	chr1:85915200-85919600	Weak transcription	Aorta	Aorta
33	chr1:85915200-85927800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:85915400-85916800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:85915400-85916800	Weak transcription	Brain Anterior Caudate	brain
36	chr1:85915400-85916800	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:85915400-85918800	Weak transcription	Fetal Brain Female	brain
38	chr1:85915400-85919000	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:85915400-85919000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:85915400-85919200	Weak transcription	Brain Substantia Nigra	brain
41	chr1:85915400-85919400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:85915600-85916600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:85915600-85916600	Weak transcription	Left Ventricle	heart
44	chr1:85915600-85916600	Weak transcription	Pancreas	Pancrea
45	chr1:85915600-85916600	Weak transcription	Psoas Muscle	Psoas
46	chr1:85915600-85916600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr1:85915600-85916600	Strong transcription	Osteobl	bone
48	chr1:85915600-85916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:85915600-85916800	Weak transcription	Esophagus	oesophagus
50	chr1:85915600-85916800	Weak transcription	Gastric	stomach

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