Variant report

Variant	rs60448326
Chromosome Location	chr13:40124487-40124488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17060035	1.00[EUR][1000 genomes]
rs57364973	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58568755	1.00[EUR][1000 genomes]
rs58584213	1.00[EUR][1000 genomes]
rs59893299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60950256	1.00[EUR][1000 genomes]
rs6563730	1.00[EUR][1000 genomes]
rs7139911	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7319092	1.00[EUR][1000 genomes]
rs73466825	0.85[AFR][1000 genomes]
rs7982709	1.00[EUR][1000 genomes]
rs7997300	1.00[EUR][1000 genomes]
rs9741239	1.00[EUR][1000 genomes]
rs9741636	1.00[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:28 , 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	chr13:40123000-40125000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:40123000-40131800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:40123200-40128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:40123200-40128600	Weak transcription	HMEC	breast
27	chr13:40124000-40126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:40124200-40126400	Weak transcription	NHDF-Ad	bronchial

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