Variant report

Variant	rs9600523
Chromosome Location	chr13:76244601-76244602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
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]
rs9600522	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:3 , 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
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 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	chr13:76241200-76255600	Weak transcription	HSMMtube	muscle
8	chr13:76242400-76247800	Genic enhancers	Muscle Satellite Cultured Cells	--
9	chr13:76242600-76244800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:76242600-76244800	Enhancers	NHDF-Ad	bronchial
11	chr13:76242800-76244800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:76242800-76248800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:76243000-76244800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr13:76243000-76244800	Enhancers	Osteobl	bone
15	chr13:76243000-76245200	Enhancers	NH-A	brain
16	chr13:76243000-76246800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:76243200-76245400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr13:76243800-76244800	Enhancers	NHLF	lung
19	chr13:76243800-76245400	Enhancers	HUVEC	blood vessel
20	chr13:76244000-76245400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:76244200-76244800	Enhancers	HSMM	muscle
22	chr13:76244200-76245600	Weak transcription	Psoas Muscle	Psoas
23	chr13:76244400-76245000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:76244600-76246800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr13:76244600-76249600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:76244600-76253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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