Variant report

Variant	rs72657020
Chromosome Location	chr4:79168945-79168946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79167541..79169924-chr4:79170220..79172275,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11725114	1.00[AFR][1000 genomes]
rs12501713	1.00[AFR][1000 genomes]
rs72657011	1.00[AFR][1000 genomes]
rs72657045	1.00[AFR][1000 genomes]
rs7690281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	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
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79144200-79176000	Weak transcription	Psoas Muscle	Psoas
2	chr4:79144600-79179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79154400-79173600	Weak transcription	HepG2	liver
4	chr4:79163600-79173600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:79166000-79172800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:79166400-79169000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:79166400-79172600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:79166600-79173400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:79167400-79169800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:79167600-79169000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:79167600-79169000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:79167600-79169800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:79167800-79176000	Weak transcription	Esophagus	oesophagus
14	chr4:79168200-79169000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:79168200-79169800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:79168200-79170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:79168800-79169200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:79168800-79169200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:79168800-79169600	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:79168800-79169800	Enhancers	NHEK	skin
21	chr4:79168800-79170000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:79168800-79170000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:79168800-79170000	Enhancers	HMEC	breast
24	chr4:79168800-79170200	Enhancers	Fetal Lung	lung
25	chr4:79168800-79170400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr4:79168800-79170600	Enhancers	Fetal Heart	heart

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