Variant report

Variant	rs10513022
Chromosome Location	chr5:52727152-52727153
allele	C/G
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:7)

rs_ID	r²[population]
rs13360046	1.00[EUR][1000 genomes]
rs16881394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2019033	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3891316	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9292016	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9292018	0.80[ASN][1000 genomes]
rs9986304	0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52721600-52730200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:52723200-52728200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:52724600-52728000	Enhancers	NHDF-Ad	bronchial
4	chr5:52724800-52728400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:52725000-52728400	Enhancers	Osteobl	bone
6	chr5:52725200-52728000	Enhancers	NHLF	lung
7	chr5:52725400-52727200	Enhancers	Hela-S3	cervix
8	chr5:52725600-52727800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:52725600-52728400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:52726000-52729200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:52726200-52727400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:52726400-52727600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:52726400-52729200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:52726400-52729600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:52726400-52734400	Weak transcription	NHEK	skin
16	chr5:52726600-52727600	Enhancers	Liver	Liver
17	chr5:52726600-52729000	Weak transcription	HMEC	breast
18	chr5:52726600-52734200	Weak transcription	NH-A	brain
19	chr5:52726800-52728200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr5:52726800-52728600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:52726800-52733800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:52727000-52728000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:52727000-52728800	Weak transcription	HepG2	liver
24	chr5:52727000-52730400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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