Variant report

Variant	rs73817163
Chromosome Location	chr4:54778288-54778289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10008718	1.00[AMR][1000 genomes]
rs1391764	1.00[AMR][1000 genomes]
rs1498831	1.00[AMR][1000 genomes]
rs17083589	1.00[AMR][1000 genomes]
rs17083604	1.00[AMR][1000 genomes]
rs57221039	1.00[AMR][1000 genomes]
rs57537230	1.00[AMR][1000 genomes]
rs59962691	1.00[AMR][1000 genomes]
rs61293289	1.00[AMR][1000 genomes]
rs73143825	1.00[AMR][1000 genomes]
rs73143858	1.00[AMR][1000 genomes]
rs73143861	1.00[AMR][1000 genomes]
rs73143867	1.00[AMR][1000 genomes]
rs73143869	1.00[AMR][1000 genomes]
rs73143872	1.00[AMR][1000 genomes]
rs73817119	1.00[AMR][1000 genomes]
rs73818151	1.00[AMR][1000 genomes]
rs73818152	1.00[AMR][1000 genomes]
rs73818160	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	nsv879017	chr4:54656948-54784205	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1014456	chr4:54759975-54807987	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1014406	chr4:54773519-54813321	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54774400-54782600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:54775200-54780400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:54775400-54783200	Weak transcription	Aorta	Aorta
4	chr4:54775600-54778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:54775600-54778400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:54775600-54778600	Weak transcription	NHEK	skin
7	chr4:54775600-54778800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:54775600-54778800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:54775600-54779600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:54775600-54780000	Weak transcription	NHLF	lung
11	chr4:54775600-54780200	Weak transcription	HUVEC	blood vessel
12	chr4:54775600-54780400	Weak transcription	NH-A	brain
13	chr4:54775600-54780800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:54775600-54780800	Weak transcription	Hela-S3	cervix
15	chr4:54775800-54778400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:54775800-54778400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:54775800-54778400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:54775800-54778400	Weak transcription	NHDF-Ad	bronchial
19	chr4:54775800-54779600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:54775800-54780200	Weak transcription	Osteobl	bone
21	chr4:54775800-54780400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:54775800-54780400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:54775800-54780600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:54775800-54782400	Weak transcription	HSMM	muscle
25	chr4:54775800-54782400	Weak transcription	HSMMtube	muscle
26	chr4:54776000-54780200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:54778200-54780400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr4:54778200-54786800	Enhancers	HMEC	breast
29	chr4:54778200-54787400	Enhancers	Primary monocytes fromperipheralblood	blood

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