Variant report

Variant	rs9548747
Chromosome Location	chr13:39936828-39936829
allele	C/T
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:4)

rs_ID	r²[population]
rs12856032	0.85[AMR][1000 genomes]
rs9315678	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9315679	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9532374	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv996813	chr13:39929705-39937070	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	lncRNA	n/a	inside rSNPs	diseases
5	esv3506174	chr13:39932452-39937350	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	esv3497337	chr13:39933688-39937250	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv511518	chr13:39934077-39936903	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv561534	chr13:39934518-39942791	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
2	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
4	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:39929200-39938800	Weak transcription	Fetal Heart	heart
6	chr13:39933800-39937000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:39936000-39937800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:39936400-39937200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39936400-39937400	Enhancers	Left Ventricle	heart
10	chr13:39936600-39941000	Enhancers	NHDF-Ad	bronchial
11	chr13:39936800-39937000	Enhancers	Gastric	stomach
12	chr13:39936800-39937000	Enhancers	NHEK	skin
13	chr13:39936800-39937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr13:39936800-39937400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:39936800-39937400	Enhancers	Lung	lung
16	chr13:39936800-39937400	Enhancers	Right Ventricle	heart
17	chr13:39936800-39937600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:39936800-39937800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:39936800-39939400	Enhancers	Ovary	ovary
20	chr13:39936800-39939600	Enhancers	Brain Cingulate Gyrus	brain
21	chr13:39936800-39939600	Enhancers	Brain Substantia Nigra	brain
22	chr13:39936800-39939800	Enhancers	Fetal Lung	lung

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