Variant report

Variant	rs55762569
Chromosome Location	chr5:93578475-93578476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11739227	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1460182	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2015009	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv530552	chr5:93416111-93588509	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1024014	chr5:93460441-93655609	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv830406	chr5:93514329-93683512	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	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	chr5:93555600-93578800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:93568000-93617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:93572400-93585400	Weak transcription	Psoas Muscle	Psoas
4	chr5:93572800-93586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:93573600-93581200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:93576000-93579600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:93576200-93579400	Enhancers	HMEC	breast
8	chr5:93576400-93579400	Weak transcription	Stomach Mucosa	stomach
9	chr5:93576400-93580000	Enhancers	Osteobl	bone
10	chr5:93577000-93579200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:93577400-93579000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:93577400-93579200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:93577600-93578800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:93577600-93579000	Weak transcription	NH-A	brain
15	chr5:93577800-93578800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:93578000-93578600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:93578000-93579200	Weak transcription	NHDF-Ad	bronchial
18	chr5:93578000-93584000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:93578000-93586800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:93578000-93611400	Weak transcription	Hela-S3	cervix
21	chr5:93578200-93578600	Weak transcription	NHEK	skin
22	chr5:93578200-93579200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:93578200-93579400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:93578200-93580400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:93578200-93581800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:93578200-93582200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:93578400-93578800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr5:93578400-93580000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:93578400-93584200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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