Variant report

Variant	rs17060245
Chromosome Location	chr13:40125010-40125011
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10459367	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11841092	0.83[EUR][1000 genomes]
rs12585456	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58418761	0.87[EUR][1000 genomes]
rs58662524	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58918104	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs59531868	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72621301	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72621302	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72623303	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs72623305	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7332354	0.85[EUR][1000 genomes]
rs9315708	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9566452	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9566455	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9566456	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9576844	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576846	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576847	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576850	0.85[EUR][1000 genomes]
rs9576853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576855	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576856	1.00[EUR][1000 genomes]
rs9576857	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs9576858	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9576860	0.99[EUR][1000 genomes]
rs9576863	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9576864	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9576867	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9576868	0.83[AFR][1000 genomes];0.87[EUR][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	esv2421708	chr13:40118603-40125453	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
4	nsv523936	chr13:40119410-40128845	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2760292	chr13:40122096-40125453	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:40111200-40133200	Weak transcription	Aorta	Aorta
3	chr13:40111400-40128200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:40111600-40128600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:40113800-40128600	Weak transcription	Ovary	ovary
6	chr13:40114000-40131200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:40114200-40125200	Weak transcription	HSMM	muscle
8	chr13:40114400-40136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr13:40115400-40133200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:40115600-40133600	Weak transcription	Osteobl	bone
11	chr13:40117000-40130000	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:40117000-40130400	Weak transcription	HSMMtube	muscle
13	chr13:40117600-40126400	Weak transcription	Right Ventricle	heart
14	chr13:40117800-40128600	Weak transcription	Right Atrium	heart
15	chr13:40117800-40131200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:40118800-40126400	Weak transcription	Brain Substantia Nigra	brain
17	chr13:40119800-40130200	Weak transcription	Fetal Heart	heart
18	chr13:40120000-40125600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:40120000-40131600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:40121200-40125200	Weak transcription	Left Ventricle	heart
21	chr13:40121400-40136200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:40122600-40125200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:40123000-40131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:40123200-40128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:40123200-40128600	Weak transcription	HMEC	breast
26	chr13:40124000-40126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:40124200-40126400	Weak transcription	NHDF-Ad	bronchial
28	chr13:40125000-40126400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:40125000-40131600	Weak transcription	Fetal Lung	lung

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