Variant report

Variant	rs28590401
Chromosome Location	chr5:167228009-167228010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10056158	1.00[EUR][1000 genomes]
rs10063203	1.00[EUR][1000 genomes]
rs13354770	1.00[EUR][1000 genomes]
rs13361271	1.00[EUR][1000 genomes]
rs13361323	1.00[EUR][1000 genomes]
rs13361359	1.00[EUR][1000 genomes]
rs13361383	1.00[EUR][1000 genomes]
rs58820246	1.00[EUR][1000 genomes]
rs59859592	1.00[EUR][1000 genomes]
rs60519985	1.00[EUR][1000 genomes]
rs73370917	1.00[EUR][1000 genomes]
rs73370924	1.00[EUR][1000 genomes]
rs7704178	1.00[EUR][1000 genomes]
rs7723890	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167218000-167229600	Weak transcription	HSMM	muscle
2	chr5:167219800-167229600	Weak transcription	NH-A	brain
3	chr5:167220200-167229600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:167220400-167229600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:167225600-167228400	Weak transcription	NHEK	skin
6	chr5:167225600-167228600	Weak transcription	HMEC	breast
7	chr5:167225600-167228800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:167225600-167239200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:167225800-167228600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:167226000-167229600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:167226000-167229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:167226000-167229800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:167226200-167229600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:167226200-167229800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:167226200-167229800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:167226200-167237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:167226400-167228200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:167226800-167229600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:167227600-167229800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:167227800-167229600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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