Variant report

Variant	rs1995061
Chromosome Location	chr4:79398297-79398298
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17003128	1.00[AMR][1000 genomes]
rs17003130	1.00[AMR][1000 genomes]
rs17003157	1.00[AMR][1000 genomes]
rs17003170	1.00[AMR][1000 genomes]
rs17003190	1.00[AMR][1000 genomes]
rs17003217	1.00[AMR][1000 genomes]
rs17003229	1.00[AMR][1000 genomes]
rs17003249	1.00[AMR][1000 genomes]
rs17003255	1.00[AMR][1000 genomes]
rs17003269	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003281	1.00[AMR][1000 genomes]
rs17003344	1.00[AMR][1000 genomes]
rs34358235	1.00[AMR][1000 genomes]
rs36067699	1.00[AMR][1000 genomes]
rs6533643	1.00[AMR][1000 genomes]
rs6830611	1.00[AMR][1000 genomes]
rs6843017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6849354	1.00[AMR][1000 genomes]
rs7670643	1.00[AMR][1000 genomes]
rs7678493	1.00[AMR][1000 genomes]
rs7690611	1.00[AMR][1000 genomes]
rs7691528	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	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:46 , 50 per page) page: 1

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	chr4:79374200-79398800	Weak transcription	Esophagus	oesophagus
10	chr4:79376200-79398600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:79376200-79411600	Weak transcription	Fetal Stomach	stomach
12	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
13	chr4:79384600-79405400	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr4:79384800-79405000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:79384800-79405600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
17	chr4:79385800-79398800	Weak transcription	Aorta	Aorta
18	chr4:79388200-79405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:79391000-79405600	Weak transcription	Fetal Heart	heart
20	chr4:79391400-79398800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:79391600-79406800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:79392400-79398800	Weak transcription	Left Ventricle	heart
23	chr4:79393000-79402200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:79393200-79398800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:79393600-79398600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:79393600-79401400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:79393800-79398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:79394200-79402000	Weak transcription	HSMMtube	muscle
30	chr4:79394400-79401600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:79395600-79398600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:79395800-79398800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:79396000-79400600	Weak transcription	Fetal Intestine Large	intestine
34	chr4:79396200-79406000	Strong transcription	HepG2	liver
35	chr4:79396600-79398400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:79396600-79400800	Weak transcription	Fetal Kidney	kidney
37	chr4:79396800-79398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:79396800-79398600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:79396800-79410000	Weak transcription	Pancreas	Pancrea
40	chr4:79397600-79398400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:79397600-79398600	Enhancers	K562	blood
42	chr4:79397600-79400800	Enhancers	NHDF-Ad	bronchial
43	chr4:79397800-79398400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:79397800-79399200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:79398000-79398400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:79398000-79409400	Weak transcription	Fetal Lung	lung

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