Variant report

Variant	rs62309887
Chromosome Location	chr4:79240907-79240908
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79231967..79234042-chr4:79240266..79243102,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11721347	0.82[AMR][1000 genomes]
rs13113556	0.93[AMR][1000 genomes]
rs13123710	1.00[AMR][1000 genomes]
rs13124048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13134439	1.00[AFR][1000 genomes]
rs17003164	0.93[AMR][1000 genomes]
rs17421078	1.00[AFR][1000 genomes]
rs34141392	0.82[AMR][1000 genomes]
rs34204048	0.82[AMR][1000 genomes]
rs34304637	0.83[EUR][1000 genomes]
rs34568699	0.82[AMR][1000 genomes]
rs35514354	0.93[AMR][1000 genomes]
rs36084946	0.93[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:45 , 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	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
3	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:79220400-79246600	Weak transcription	HMEC	breast
5	chr4:79220600-79241400	Weak transcription	Aorta	Aorta
6	chr4:79220800-79243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:79227000-79241400	Weak transcription	Left Ventricle	heart
9	chr4:79229400-79241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:79229400-79241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
12	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
13	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:79231600-79244400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:79233000-79241000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:79234600-79242600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:79235000-79241000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:79235200-79241400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:79235800-79246600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:79236000-79249200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:79236400-79241600	Strong transcription	Fetal Intestine Small	intestine
23	chr4:79236800-79241600	Strong transcription	Fetal Intestine Large	intestine
24	chr4:79237800-79246200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:79237800-79252800	Weak transcription	Fetal Kidney	kidney
26	chr4:79238000-79241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:79238000-79263200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:79238400-79244800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:79238600-79244000	Weak transcription	Lung	lung
30	chr4:79238600-79246200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:79238600-79246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:79238800-79241000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:79239600-79241000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:79239600-79241200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:79239600-79241200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:79239800-79241200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:79240200-79241000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:79240200-79241200	Strong transcription	HepG2	liver
39	chr4:79240200-79241400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:79240400-79241000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:79240400-79246600	Weak transcription	Fetal Heart	heart
42	chr4:79240400-79263000	Weak transcription	Psoas Muscle	Psoas
43	chr4:79240600-79252400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr4:79240800-79241200	Enhancers	Dnd41	blood
45	chr4:79240800-79241600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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