Variant report

Variant	rs73827946
Chromosome Location	chr4:79214260-79214261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17003090	0.85[AMR][1000 genomes]
rs17003105	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17003106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003107	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17003109	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs41391850	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714031	0.85[AMR][1000 genomes]
rs55895609	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56323989	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57591252	0.85[AMR][1000 genomes]
rs58723665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59429199	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61150533	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs61476761	0.85[AMR][1000 genomes]
rs6812049	0.85[AMR][1000 genomes]
rs6821829	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6822437	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6838026	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6855248	0.85[AMR][1000 genomes]
rs728200	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827911	1.00[AMR][1000 genomes]
rs73827912	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827913	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827916	0.85[AMR][1000 genomes]
rs73827918	0.85[AMR][1000 genomes]
rs73827922	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827923	0.85[AMR][1000 genomes]
rs73827925	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827930	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827931	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827932	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827948	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7667557	0.85[AMR][1000 genomes]
rs7676910	0.83[AMR][1000 genomes]
rs7682296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7688218	0.85[AMR][1000 genomes]
rs7690232	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7699637	0.87[AFR][1000 genomes];1.00[AMR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:79187600-79214800	Weak transcription	Left Ventricle	heart
3	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
4	chr4:79198600-79215600	Weak transcription	Esophagus	oesophagus
5	chr4:79198600-79217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
7	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:79204000-79217600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:79206400-79215000	Weak transcription	Right Atrium	heart
11	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:79208800-79218200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
15	chr4:79209200-79217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr4:79210000-79215200	Weak transcription	Right Ventricle	heart
17	chr4:79210600-79218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:79211200-79216200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:79211400-79217200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:79212200-79215800	Enhancers	HSMMtube	muscle
21	chr4:79212400-79217200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:79212800-79214600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:79212800-79214800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:79212800-79216000	Enhancers	Fetal Kidney	kidney
25	chr4:79212800-79218000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:79213200-79218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:79213400-79215800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr4:79213600-79214800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:79213600-79214800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:79213600-79214800	Enhancers	NHDF-Ad	bronchial
31	chr4:79213600-79215000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:79213600-79215600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:79213600-79215600	Enhancers	Adipose Nuclei	Adipose
34	chr4:79213600-79215800	Enhancers	Fetal Lung	lung
35	chr4:79213600-79215800	Enhancers	Rectal Smooth Muscle	rectum
36	chr4:79213800-79214800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:79213800-79215000	Enhancers	Fetal Heart	heart
38	chr4:79213800-79215600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:79213800-79215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:79213800-79215600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr4:79213800-79215800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr4:79213800-79215800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr4:79213800-79215800	Enhancers	HMEC	breast
44	chr4:79213800-79216000	Enhancers	HSMM	muscle
45	chr4:79213800-79217800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:79214000-79214800	Enhancers	Osteobl	bone
47	chr4:79214000-79215000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:79214000-79215600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:79214000-79215800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:79214000-79217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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