Variant report

Variant	rs4769799
Chromosome Location	chr13:30576953-30576954
allele	A/G
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:13)

rs_ID	r²[population]
rs2779514	0.94[ASN][1000 genomes]
rs4363718	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4569104	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7325348	0.89[ASN][1000 genomes]
rs7994485	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs846837	0.89[ASN][1000 genomes]
rs846838	0.80[ASN][1000 genomes]
rs846841	0.91[ASN][1000 genomes]
rs846842	0.82[ASN][1000 genomes]
rs846844	0.85[ASN][1000 genomes]
rs9506249	0.84[EUR][1000 genomes]
rs9506250	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9551791	0.84[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30569200-30578400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:30569200-30580000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30573400-30577400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:30574000-30578000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:30574400-30579400	Weak transcription	Spleen	Spleen
6	chr13:30574800-30577400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:30576000-30577400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:30576000-30577400	Enhancers	NHDF-Ad	bronchial
9	chr13:30576200-30577000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr13:30576200-30577200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:30576200-30577200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:30576200-30577200	Enhancers	NHLF	lung
13	chr13:30576200-30577200	Enhancers	Osteobl	bone
14	chr13:30576200-30577400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:30576200-30577400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:30576200-30577400	Enhancers	NHEK	skin
17	chr13:30576400-30577000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:30576400-30577000	Enhancers	HSMMtube	muscle
19	chr13:30576400-30577000	Enhancers	NH-A	brain
20	chr13:30576400-30577200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:30576400-30577200	Enhancers	Placenta	Placenta
22	chr13:30576400-30577400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:30576400-30577400	Enhancers	HMEC	breast
24	chr13:30576400-30577600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:30576600-30577200	Enhancers	HSMM	muscle
26	chr13:30576600-30578000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:30576800-30578400	Weak transcription	Placenta Amnion	Placenta Amnion

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