Variant report

Variant	rs9566449
Chromosome Location	chr13:40096643-40096644
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1002461	1.00[EUR][1000 genomes]
rs17060174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17060332	1.00[EUR][1000 genomes]
rs1927205	1.00[YRI][hapmap]
rs1927208	1.00[YRI][hapmap]
rs1927209	1.00[YRI][hapmap]
rs73466901	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9315699	0.98[ASN][1000 genomes]
rs9532390	1.00[YRI][hapmap]
rs9548789	1.00[YRI][hapmap]
rs9548791	1.00[YRI][hapmap]
rs9548792	1.00[YRI][hapmap]
rs9566450	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9566453	0.98[ASN][1000 genomes]
rs9566454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576829	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs9576830	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs9576831	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9576833	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576836	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576840	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576841	0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9576842	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576854	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576861	1.00[EUR][1000 genomes]
rs9576862	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2761784	chr13:40086325-40100095	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:40090600-40100800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:40090600-40102400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:40090800-40102400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:40093800-40097200	Enhancers	Fetal Heart	heart
6	chr13:40093800-40100800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:40094200-40096800	Enhancers	Right Ventricle	heart
8	chr13:40094600-40096800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:40094600-40096800	Enhancers	Ovary	ovary
10	chr13:40094600-40097000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:40095800-40096800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:40095800-40096800	Enhancers	Brain Substantia Nigra	brain
13	chr13:40095800-40097000	Enhancers	Left Ventricle	heart
14	chr13:40096000-40096800	Enhancers	Lung	lung
15	chr13:40096000-40096800	Enhancers	Right Atrium	heart
16	chr13:40096200-40098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:40096200-40098200	Weak transcription	NHEK	skin
18	chr13:40096200-40099000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:40096200-40099600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:40096200-40101600	Weak transcription	Brain Angular Gyrus	brain
21	chr13:40096600-40096800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:40096600-40097800	Weak transcription	Fetal Lung	lung
23	chr13:40096600-40101400	Weak transcription	Aorta	Aorta

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