Variant report

Variant	rs923020
Chromosome Location	chr4:79300016-79300017
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10033307	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12643648	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1753085	0.87[ASN][1000 genomes]
rs345541	0.89[ASN][1000 genomes]
rs345542	0.89[ASN][1000 genomes]
rs384373	0.85[ASN][1000 genomes]
rs393285	0.88[ASN][1000 genomes]
rs4975058	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4975076	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv3465530	chr4:79298822-79300788	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3465529	chr4:79298859-79300775	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv3465528	chr4:79298886-79300710	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3465527	chr4:79298887-79300749	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3465532	chr4:79298988-79300657	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv14779	chr4:79299637-79300649	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79275400-79310600	Weak transcription	Aorta	Aorta
2	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
3	chr4:79288000-79318400	Weak transcription	Pancreas	Pancrea
4	chr4:79288200-79300200	Weak transcription	HSMMtube	muscle
5	chr4:79288400-79300200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:79290200-79310800	Weak transcription	Brain Anterior Caudate	brain
7	chr4:79291200-79308400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:79291200-79314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:79291800-79300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:79291800-79301400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:79291800-79306400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:79291800-79307200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:79291800-79318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr4:79292000-79300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:79292000-79312000	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr4:79292200-79301000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:79292200-79306600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:79292200-79308400	Weak transcription	Fetal Lung	lung
19	chr4:79292200-79312200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:79292400-79310800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:79292400-79312000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:79292600-79300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:79292600-79301200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:79293000-79300200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:79293000-79300400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:79294000-79300800	Weak transcription	Fetal Heart	heart
27	chr4:79295400-79300800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:79295400-79301800	Weak transcription	Psoas Muscle	Psoas
29	chr4:79295600-79300200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79295600-79300600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:79295600-79338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:79297000-79301200	Weak transcription	Fetal Intestine Large	intestine
33	chr4:79297200-79300400	Weak transcription	HepG2	liver
34	chr4:79297600-79300800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:79297600-79301800	Weak transcription	Fetal Kidney	kidney
36	chr4:79297600-79310800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:79298000-79308000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr4:79298200-79300800	Weak transcription	Fetal Intestine Small	intestine
39	chr4:79299400-79300200	Weak transcription	NHDF-Ad	bronchial
40	chr4:79299400-79302000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:79299400-79308600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:79299800-79301000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:79300000-79300800	Genic enhancers	HUES64 Cell Line	embryonic stem cell

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