Variant report

Variant	rs28633620
Chromosome Location	chr4:79399804-79399805
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79393300..79397628-chr4:79398906..79402116,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10017266	1.00[EUR][1000 genomes]
rs17003170	1.00[EUR][1000 genomes]
rs17003229	1.00[EUR][1000 genomes]
rs2029915	1.00[EUR][1000 genomes]
rs58042130	1.00[EUR][1000 genomes]
rs72867937	1.00[EUR][1000 genomes]
rs9995258	1.00[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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:79363200-79409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:79365600-79406400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:79366200-79408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:79376200-79411600	Weak transcription	Fetal Stomach	stomach
10	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
11	chr4:79384600-79405400	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr4:79384800-79405000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:79384800-79405600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
15	chr4:79388200-79405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:79391000-79405600	Weak transcription	Fetal Heart	heart
17	chr4:79391600-79406800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:79393000-79402200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:79393600-79401400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:79394200-79402000	Weak transcription	HSMMtube	muscle
22	chr4:79394400-79401600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:79396000-79400600	Weak transcription	Fetal Intestine Large	intestine
24	chr4:79396200-79406000	Strong transcription	HepG2	liver
25	chr4:79396600-79400800	Weak transcription	Fetal Kidney	kidney
26	chr4:79396800-79410000	Weak transcription	Pancreas	Pancrea
27	chr4:79397600-79400800	Enhancers	NHDF-Ad	bronchial
28	chr4:79398000-79409400	Weak transcription	Fetal Lung	lung
29	chr4:79398400-79400200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:79398400-79405400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:79398400-79405800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:79398600-79400000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:79398600-79403800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:79398600-79404600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:79398800-79404000	Strong transcription	Fetal Intestine Small	intestine
36	chr4:79399000-79400200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:79399000-79402000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:79399000-79402000	Weak transcription	NHLF	lung
39	chr4:79399000-79402600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:79399200-79400600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:79399200-79400600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr4:79399200-79401600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:79399200-79401600	Weak transcription	HMEC	breast
44	chr4:79399200-79401800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:79399200-79401800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:79399200-79402800	Weak transcription	Left Ventricle	heart
47	chr4:79399200-79404000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:79399200-79409800	Weak transcription	Aorta	Aorta
49	chr4:79399200-79410000	Weak transcription	Esophagus	oesophagus
50	chr4:79399400-79400200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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