Variant report

Variant	rs9532396
Chromosome Location	chr13:40117271-40117272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1885759	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2324337	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396912	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7322336	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7333056	0.91[EUR][1000 genomes]
rs7981547	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7982917	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9315701	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315702	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9315703	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9315706	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9315707	0.84[EUR][1000 genomes]
rs9532399	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9548804	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548805	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548809	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9548817	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9548819	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9548820	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9548821	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9548822	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9548824	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9548825	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9548826	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9548827	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9548829	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9603564	0.80[AMR][1000 genomes];0.92[EUR][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	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	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	chr13:40106600-40117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:40106800-40124000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
5	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:40111600-40120600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr13:40111800-40117400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:40112000-40117600	Weak transcription	NHEK	skin
10	chr13:40112000-40122400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:40113800-40128600	Weak transcription	Ovary	ovary
12	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:40114200-40125200	Weak transcription	HSMM	muscle
14	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:40115600-40120800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr13:40115600-40133600	Weak transcription	Osteobl	bone
18	chr13:40115800-40120600	Weak transcription	Left Ventricle	heart
19	chr13:40116800-40117400	Weak transcription	Right Ventricle	heart
20	chr13:40116800-40117800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:40116800-40117800	Enhancers	Right Atrium	heart
22	chr13:40117000-40119600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
24	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
25	chr13:40117200-40119200	Enhancers	Fetal Heart	heart

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