Variant report

Variant	rs72864591
Chromosome Location	chr4:79218997-79218998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57078733	1.00[AFR][1000 genomes]
rs58470952	0.81[AFR][1000 genomes]
rs6814182	1.00[EUR][1000 genomes]
rs72864506	0.81[AFR][1000 genomes]
rs72864509	0.81[AFR][1000 genomes]
rs72864517	0.86[AFR][1000 genomes]
rs72864529	0.93[AFR][1000 genomes]
rs72864537	0.93[AFR][1000 genomes]
rs72864569	0.93[AFR][1000 genomes]
rs72864575	0.93[AFR][1000 genomes]
rs72864590	1.00[AFR][1000 genomes]
rs72864600	0.93[AFR][1000 genomes]
rs72866304	0.93[AFR][1000 genomes]
rs72866313	0.93[AFR][1000 genomes]
rs72866326	0.93[AFR][1000 genomes]
rs72866337	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3337729	chr4:79218428-79220476	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
2	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
7	chr4:79214000-79220200	Weak transcription	Fetal Intestine Small	intestine
8	chr4:79214000-79220200	Weak transcription	Psoas Muscle	Psoas
9	chr4:79214000-79223400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:79215600-79219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:79215600-79219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:79215600-79219800	Weak transcription	NHEK	skin
13	chr4:79215600-79220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:79215600-79220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:79215600-79220200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr4:79215600-79223000	Weak transcription	Fetal Brain Male	brain
17	chr4:79215600-79229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:79215800-79220000	Weak transcription	HMEC	breast
19	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
21	chr4:79216000-79219000	Weak transcription	HSMM	muscle
22	chr4:79217200-79222200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:79217400-79219000	Enhancers	Adipose Nuclei	Adipose
24	chr4:79217600-79222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:79217800-79219800	Weak transcription	HepG2	liver
26	chr4:79217800-79221400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:79218000-79219600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:79218000-79220000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:79218000-79220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79218000-79220200	Weak transcription	Lung	lung
31	chr4:79218000-79224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:79218200-79219000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:79218200-79219000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr4:79218200-79220800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr4:79218200-79222800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:79218400-79219600	Weak transcription	NHLF	lung
37	chr4:79218600-79219000	Active TSS	Aorta	Aorta
38	chr4:79218600-79219600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:79218600-79219600	Weak transcription	Fetal Lung	lung
40	chr4:79218600-79219600	Weak transcription	Hela-S3	cervix
41	chr4:79218600-79219600	Weak transcription	NH-A	brain
42	chr4:79218600-79219800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:79218600-79219800	Weak transcription	Fetal Heart	heart
44	chr4:79218600-79219800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr4:79218600-79220000	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:79218600-79220200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:79218600-79220200	Weak transcription	HSMMtube	muscle
48	chr4:79218600-79220800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:79218600-79221200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:79218600-79221200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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