Variant report

Variant	rs73242639
Chromosome Location	chr4:57951011-57951012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10016108	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10016200	0.85[EUR][1000 genomes]
rs1618761	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17183291	0.87[ASN][1000 genomes]
rs1718848	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17787430	0.87[ASN][1000 genomes]
rs35174788	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865175	1.00[ASN][1000 genomes]
rs4865176	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4865177	1.00[ASN][1000 genomes]
rs62308281	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62308282	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554413	0.87[ASN][1000 genomes]
rs67355508	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57934400-57951600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:57938000-57955800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr4:57942800-57960400	Weak transcription	Psoas Muscle	Psoas
4	chr4:57944400-57964000	Weak transcription	Fetal Thymus	thymus
5	chr4:57945200-57958000	Weak transcription	Gastric	stomach
6	chr4:57945200-57960400	Weak transcription	Pancreas	Pancrea
7	chr4:57947200-57958000	Weak transcription	Aorta	Aorta
8	chr4:57948000-57955600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:57948000-57955800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr4:57948200-57951600	Weak transcription	Fetal Heart	heart
11	chr4:57948200-57952000	Weak transcription	Right Ventricle	heart
12	chr4:57948400-57955800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:57948400-57956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:57948400-57965200	Weak transcription	Brain Anterior Caudate	brain
15	chr4:57948600-57951800	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:57948600-57952000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:57948600-57952400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:57948600-57953200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:57948600-57953200	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:57948600-57960400	Weak transcription	HSMM	muscle
21	chr4:57949800-57957200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:57950000-57952200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:57950000-57952200	Weak transcription	Left Ventricle	heart
24	chr4:57950000-57952600	Weak transcription	HSMMtube	muscle
25	chr4:57950000-57952600	Weak transcription	NHEK	skin
26	chr4:57950000-57954200	Weak transcription	Fetal Kidney	kidney
27	chr4:57950000-57955600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:57950000-57955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:57950000-57957400	Weak transcription	Ovary	ovary
30	chr4:57950000-57958200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:57950000-57960000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:57950000-57960400	Weak transcription	Right Atrium	heart
33	chr4:57950000-57963800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:57950200-57953600	Weak transcription	Liver	Liver
35	chr4:57950200-57955800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:57950600-57951400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:57950600-57954800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:57950800-57952600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:57950800-57953000	Weak transcription	NH-A	brain
40	chr4:57950800-57955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:57950800-57957600	Weak transcription	A549	lung
42	chr4:57950800-57960400	Weak transcription	NHLF	lung
43	chr4:57951000-57951400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:57951000-57951400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:57951000-57951600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:57951000-57955400	Weak transcription	HUVEC	blood vessel
47	chr4:57951000-57955600	Strong transcription	Osteobl	bone

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