Variant report

Variant	rs9600522
Chromosome Location	chr13:76241547-76241548
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12017010	1.00[AFR][1000 genomes]
rs9593107	0.85[AFR][1000 genomes]
rs9600510	0.85[AFR][1000 genomes]
rs9600512	0.85[AFR][1000 genomes]
rs9600513	0.85[AFR][1000 genomes]
rs9600523	1.00[AFR][1000 genomes]
rs9600525	0.85[AFR][1000 genomes]
rs9600532	0.91[AFR][1000 genomes]
rs9600547	0.84[AFR][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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS 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 target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:76235800-76249200	Weak transcription	Aorta	Aorta
4	chr13:76236000-76249200	Weak transcription	Ovary	ovary
5	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:76237200-76248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:76239000-76243000	Weak transcription	NH-A	brain
8	chr13:76240200-76241800	Enhancers	NHEK	skin
9	chr13:76240200-76242000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr13:76240400-76241600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:76240400-76241800	Enhancers	HMEC	breast
12	chr13:76240400-76242000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:76240600-76241800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr13:76240600-76242200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:76240600-76242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr13:76240600-76244600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:76241200-76242600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:76241200-76242600	Weak transcription	NHDF-Ad	bronchial
19	chr13:76241200-76242800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:76241200-76243000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:76241200-76243600	Weak transcription	Psoas Muscle	Psoas
22	chr13:76241200-76255600	Weak transcription	HSMMtube	muscle
23	chr13:76241400-76242200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr13:76241400-76242400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:76241400-76242800	Weak transcription	NHLF	lung
26	chr13:76241400-76243000	Weak transcription	HSMM	muscle
27	chr13:76241400-76243000	Genic enhancers	Osteobl	bone

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