Variant report

Variant	rs4634343
Chromosome Location	chr5:112482049-112482050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10068491	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10463646	0.84[EUR][1000 genomes]
rs10519334	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13190040	0.85[EUR][1000 genomes]
rs1947026	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2044238	0.84[EUR][1000 genomes]
rs2044239	0.84[EUR][1000 genomes]
rs2165931	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2416303	0.85[EUR][1000 genomes]
rs4705794	0.84[EUR][1000 genomes]
rs7720549	0.85[EUR][1000 genomes]
rs7720866	0.83[EUR][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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3428228	chr5:112481516-112482881	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112467400-112493200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:112470200-112491000	Weak transcription	Fetal Kidney	kidney
3	chr5:112474800-112482400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:112477000-112483200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:112477200-112483200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:112477200-112485400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:112477400-112482400	Weak transcription	Adipose Nuclei	Adipose
8	chr5:112477400-112482600	Weak transcription	NHLF	lung
9	chr5:112477400-112486600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112477400-112486600	Weak transcription	Right Atrium	heart
11	chr5:112477400-112489200	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:112477400-112500600	Weak transcription	Fetal Stomach	stomach
13	chr5:112477600-112482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:112477600-112482800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:112477600-112482800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:112477600-112483000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:112477800-112482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112478000-112482400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:112478000-112483000	Weak transcription	Left Ventricle	heart
20	chr5:112478000-112485600	Weak transcription	Pancreas	Pancrea
21	chr5:112478000-112497000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:112478200-112482400	Weak transcription	HSMMtube	muscle
23	chr5:112478400-112482400	Weak transcription	NHDF-Ad	bronchial
24	chr5:112478400-112483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:112478600-112483000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:112478800-112483000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:112479200-112485200	Weak transcription	Liver	Liver
28	chr5:112479200-112490000	Weak transcription	Aorta	Aorta
29	chr5:112479400-112489600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:112479800-112485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:112480400-112487200	Weak transcription	Right Ventricle	heart
32	chr5:112480600-112483600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:112480800-112483200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:112481000-112483000	Weak transcription	Psoas Muscle	Psoas
35	chr5:112481400-112482400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:112481400-112496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr5:112481600-112482800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:112481600-112483600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:112481600-112483600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:112481600-112483800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:112481600-112485400	Weak transcription	Ovary	ovary
42	chr5:112481800-112486400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:112481800-112487800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:112482000-112482200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:112482000-112482800	Weak transcription	HMEC	breast
46	chr5:112482000-112483000	Weak transcription	NHEK	skin
47	chr5:112482000-112483600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:112482000-112483600	Enhancers	Osteobl	bone
49	chr5:112482000-112484200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr5:112482000-112484400	Enhancers	Fetal Heart	heart

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