Variant report

Variant	rs58087494
Chromosome Location	chr4:79228645-79228646
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11721837	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11721839	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11722992	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11724700	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11726717	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11727404	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11732889	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11934447	0.80[AMR][1000 genomes]
rs1351845	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1351846	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17422620	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17456396	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17457087	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2061063	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs345523	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs345535	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55728531	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58917172	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59210732	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59389694	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59810825	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6533573	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6820805	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6823481	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6838168	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72657038	0.81[EUR][1000 genomes]
rs72657042	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72657044	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72657046	0.82[EUR][1000 genomes]
rs72657053	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72657054	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72657056	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7656172	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7664093	0.81[EUR][1000 genomes]
rs7671142	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7676704	0.86[AMR][1000 genomes];0.88[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:79215600-79229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
7	chr4:79218600-79229200	Weak transcription	Fetal Stomach	stomach
8	chr4:79218600-79230000	Weak transcription	Fetal Kidney	kidney
9	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:79220400-79246600	Weak transcription	HMEC	breast
11	chr4:79220600-79229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:79220600-79234200	Weak transcription	HSMMtube	muscle
13	chr4:79220600-79241400	Weak transcription	Aorta	Aorta
14	chr4:79220800-79243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:79221000-79237400	Weak transcription	Fetal Heart	heart
16	chr4:79221000-79240000	Weak transcription	Psoas Muscle	Psoas
17	chr4:79221200-79228800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:79221200-79229000	Weak transcription	HepG2	liver
19	chr4:79221200-79229200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:79221200-79229800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:79221200-79229800	Weak transcription	Fetal Lung	lung
22	chr4:79221200-79231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:79221200-79232600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:79221800-79229000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:79222000-79229000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:79222200-79229000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:79222200-79229200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:79222800-79228800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:79223000-79229000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:79223000-79229200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:79227000-79241400	Weak transcription	Left Ventricle	heart
33	chr4:79227200-79229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:79228200-79228800	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr4:79228200-79229200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:79228600-79228800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:79228600-79229000	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr4:79228600-79229800	Strong transcription	Fetal Intestine Small	intestine

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