Variant report

Variant	rs73827948
Chromosome Location	chr4:79214951-79214952
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs17003090	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003102	0.87[AMR][1000 genomes]
rs17003104	0.87[AMR][1000 genomes]
rs17003105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003106	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17003107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003109	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1825417	0.87[AMR][1000 genomes]
rs41391850	0.85[AMR][1000 genomes]
rs55714031	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55895609	0.85[AMR][1000 genomes]
rs56323989	0.85[AMR][1000 genomes]
rs58723665	0.85[AMR][1000 genomes]
rs59429199	0.85[AMR][1000 genomes]
rs59522692	0.87[AMR][1000 genomes]
rs61150533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61476761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812049	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6821829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834011	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6838026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839334	0.87[AMR][1000 genomes]
rs6840763	0.87[AMR][1000 genomes]
rs6855248	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs728200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827911	0.85[AMR][1000 genomes]
rs73827912	0.85[AMR][1000 genomes]
rs73827913	0.85[AMR][1000 genomes]
rs73827916	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827918	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827922	0.85[AMR][1000 genomes]
rs73827923	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827925	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827930	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827932	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827934	0.87[AMR][1000 genomes]
rs73827935	0.87[AMR][1000 genomes]
rs73827943	0.87[AMR][1000 genomes]
rs73827946	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7667557	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682296	0.85[AMR][1000 genomes]
rs7687027	0.87[AMR][1000 genomes]
rs7687406	0.87[AMR][1000 genomes]
rs7688218	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7699637	0.85[AMR][1000 genomes]
rs994186	0.87[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
2	chr4:79198600-79215600	Weak transcription	Esophagus	oesophagus
3	chr4:79198600-79217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
5	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:79204000-79217600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:79206400-79215000	Weak transcription	Right Atrium	heart
9	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:79208800-79218200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
13	chr4:79209200-79217600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:79210000-79215200	Weak transcription	Right Ventricle	heart
15	chr4:79210600-79218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:79211200-79216200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:79211400-79217200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:79212200-79215800	Enhancers	HSMMtube	muscle
19	chr4:79212400-79217200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:79212800-79216000	Enhancers	Fetal Kidney	kidney
21	chr4:79212800-79218000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:79213200-79218200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:79213400-79215800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr4:79213600-79215000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:79213600-79215600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:79213600-79215600	Enhancers	Adipose Nuclei	Adipose
27	chr4:79213600-79215800	Enhancers	Fetal Lung	lung
28	chr4:79213600-79215800	Enhancers	Rectal Smooth Muscle	rectum
29	chr4:79213800-79215000	Enhancers	Fetal Heart	heart
30	chr4:79213800-79215600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:79213800-79215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:79213800-79215600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr4:79213800-79215800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr4:79213800-79215800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:79213800-79215800	Enhancers	HMEC	breast
36	chr4:79213800-79216000	Enhancers	HSMM	muscle
37	chr4:79213800-79217800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:79214000-79215000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:79214000-79215600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:79214000-79215800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:79214000-79217400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:79214000-79220200	Weak transcription	Fetal Intestine Small	intestine
43	chr4:79214000-79220200	Weak transcription	Psoas Muscle	Psoas
44	chr4:79214000-79223400	Weak transcription	Colon Smooth Muscle	Colon
45	chr4:79214200-79216200	Weak transcription	HepG2	liver
46	chr4:79214400-79215600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:79214400-79215600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:79214400-79215600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:79214600-79215600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:79214600-79215600	Enhancers	NHEK	skin

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