Variant report

Variant	rs62384409
Chromosome Location	chr5:167375333-167375334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10475524	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10475862	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11134481	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56738437	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62384403	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62384408	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6882229	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6886222	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9942389	0.87[EUR][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	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167364400-167376400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:167367200-167377600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:167367600-167378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:167369200-167378200	Enhancers	HSMM	muscle
5	chr5:167369600-167375400	Enhancers	Fetal Heart	heart
6	chr5:167370000-167377400	Enhancers	HSMMtube	muscle
7	chr5:167370000-167378200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:167371800-167377400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:167372800-167378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:167373000-167376200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:167373200-167377000	Weak transcription	Fetal Brain Male	brain
12	chr5:167373200-167377200	Weak transcription	Fetal Kidney	kidney
13	chr5:167373200-167378000	Enhancers	HMEC	breast
14	chr5:167373400-167376000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:167373400-167376000	Weak transcription	NHEK	skin
16	chr5:167373400-167376800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:167373400-167377000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:167373400-167377400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:167373400-167378000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:167373400-167378000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:167373400-167378000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:167373400-167378200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:167373400-167378600	Weak transcription	Esophagus	oesophagus
24	chr5:167373600-167375800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:167373600-167379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:167373800-167376400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:167373800-167377200	Weak transcription	Fetal Stomach	stomach
28	chr5:167374000-167375800	Enhancers	Primary hematopoietic stem cells	blood
29	chr5:167374200-167377200	Weak transcription	Right Ventricle	heart
30	chr5:167374200-167377200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:167374200-167377400	Weak transcription	Right Atrium	heart
32	chr5:167374600-167375400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr5:167374600-167376000	Weak transcription	Left Ventricle	heart
34	chr5:167374600-167376600	Weak transcription	NH-A	brain
35	chr5:167374600-167377200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:167374600-167377200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:167374600-167377200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:167374800-167376600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr5:167374800-167376800	Weak transcription	Osteobl	bone
40	chr5:167374800-167377200	Weak transcription	Colon Smooth Muscle	Colon
41	chr5:167374800-167377400	Weak transcription	Fetal Muscle Leg	muscle
42	chr5:167374800-167377600	Weak transcription	Fetal Lung	lung
43	chr5:167374800-167378200	Weak transcription	Ovary	ovary
44	chr5:167375000-167376000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:167375000-167376000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:167375000-167376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:167375000-167380400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:167375200-167377600	Weak transcription	Rectal Smooth Muscle	rectum

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