Variant report

Variant	rs9548794
Chromosome Location	chr13:40093123-40093124
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1927205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927206	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927208	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532389	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9532390	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9548789	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548791	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548792	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9548793	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548795	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566447	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1049669	chr13:40081362-40095803	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
4	esv2761784	chr13:40086325-40100095	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv1050137	chr13:40090742-40118499	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
2	chr13:40076400-40096000	Weak transcription	Lung	lung
3	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:40081600-40096000	Weak transcription	Fetal Lung	lung
5	chr13:40081600-40096600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr13:40090600-40094600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:40090600-40100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:40090600-40102400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr13:40090800-40094000	Weak transcription	Left Ventricle	heart
10	chr13:40090800-40094200	Weak transcription	Aorta	Aorta
11	chr13:40090800-40094200	Weak transcription	Right Ventricle	heart
12	chr13:40090800-40094400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:40090800-40094600	Weak transcription	Ovary	ovary
14	chr13:40090800-40095800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:40090800-40095800	Weak transcription	Brain Substantia Nigra	brain
16	chr13:40090800-40095800	Weak transcription	NHEK	skin
17	chr13:40090800-40096000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:40090800-40102400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:40091000-40094000	Weak transcription	Right Atrium	heart
20	chr13:40091000-40094200	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:40091000-40094200	Weak transcription	Psoas Muscle	Psoas
22	chr13:40091200-40095800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:40091600-40093800	Weak transcription	Fetal Heart	heart
24	chr13:40091600-40095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr13:40092200-40094600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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