Variant report

Variant	rs58917172
Chromosome Location	chr4:79201520-79201521
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11722992	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11725082	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11726717	0.81[EUR][1000 genomes]
rs11727545	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11732889	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11934447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11941234	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17422620	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17456396	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1823921	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2061063	0.81[EUR][1000 genomes]
rs345523	0.81[EUR][1000 genomes]
rs345535	0.81[EUR][1000 genomes]
rs58087494	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6533551	0.92[EUR][1000 genomes]
rs6533573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6822773	0.96[EUR][1000 genomes]
rs6838168	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6846522	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6853099	0.85[EUR][1000 genomes]
rs72657018	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72657038	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72657042	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72657044	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72657046	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72657053	0.81[EUR][1000 genomes]
rs72657054	0.80[EUR][1000 genomes]
rs7664093	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:79187600-79214800	Weak transcription	Left Ventricle	heart
4	chr4:79187800-79210400	Weak transcription	Fetal Kidney	kidney
5	chr4:79188000-79209400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
7	chr4:79189400-79207400	Weak transcription	Fetal Lung	lung
8	chr4:79191400-79213600	Weak transcription	Psoas Muscle	Psoas
9	chr4:79192200-79213800	Weak transcription	Fetal Heart	heart
10	chr4:79197400-79201600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:79198200-79214000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:79198400-79212400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:79198600-79201800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:79198600-79202600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:79198600-79206200	Weak transcription	Fetal Intestine Small	intestine
16	chr4:79198600-79207000	Weak transcription	Fetal Intestine Large	intestine
17	chr4:79198600-79207600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:79198600-79207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:79198600-79215600	Weak transcription	Esophagus	oesophagus
20	chr4:79198600-79217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
22	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:79198800-79201800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:79198800-79202600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:79198800-79213800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:79199200-79203000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:79199400-79202200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:79199600-79201600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79199800-79207400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:79200600-79205600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:79200600-79213600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:79200600-79213800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:79201200-79203000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:79201200-79203400	Weak transcription	HepG2	liver
36	chr4:79201400-79204000	Weak transcription	H1 Cell Line	embryonic stem cell

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