Variant report

Variant	rs1108412
Chromosome Location	chr13:76321497-76321498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1924214	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2328953	0.84[ASN][1000 genomes]
rs2761398	0.84[ASN][1000 genomes]
rs480929	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4885345	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs504273	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs528783	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs585233	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs607095	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs626182	0.94[ASN][1000 genomes]
rs776527	0.88[AFR][1000 genomes];0.84[ASN][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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1091	chr13:76282392-76327906	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1108412	EDNRB	cis	cerebellum	SCAN
rs1108412	KCTD12	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76294800-76321800	Weak transcription	NH-A	brain
2	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
3	chr13:76308200-76324800	Weak transcription	Left Ventricle	heart
4	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:76313600-76324800	Weak transcription	Psoas Muscle	Psoas
6	chr13:76313800-76323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:76314000-76323600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:76314000-76323800	Weak transcription	Fetal Heart	heart
9	chr13:76314200-76323200	Weak transcription	NHLF	lung
10	chr13:76314600-76321800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:76314600-76321800	Weak transcription	HSMMtube	muscle
12	chr13:76316600-76322600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:76319000-76323600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:76319000-76323600	Weak transcription	NHEK	skin
15	chr13:76319200-76323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:76319400-76321600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr13:76320400-76321800	Weak transcription	HSMM	muscle
18	chr13:76320800-76321600	Enhancers	HepG2	liver
19	chr13:76321200-76323400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:76321200-76324600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr13:76321400-76321600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:76321400-76322200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:76321400-76322200	Genic enhancers	NHDF-Ad	bronchial
24	chr13:76321400-76322800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr13:76321400-76322800	Genic enhancers	Osteobl	bone

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