Variant report

Variant	rs11618672
Chromosome Location	chr13:48686697-48686698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11617143	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11617714	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11618304	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11618554	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284209	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41287449	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45465203	0.80[EUR][1000 genomes]
rs7320258	0.86[AFR][1000 genomes]
rs7337521	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316361	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9562803	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9567982	0.80[EUR][1000 genomes]
rs9567983	0.80[EUR][1000 genomes]
rs9567985	0.80[EUR][1000 genomes]
rs9567990	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9567992	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9567995	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9568007	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9568011	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11618672	MC5R	trans	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48683400-48687800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:48685000-48688800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:48685000-48689000	Enhancers	Adipose Nuclei	Adipose
4	chr13:48685000-48689200	Enhancers	HepG2	liver
5	chr13:48685200-48687200	Enhancers	Left Ventricle	heart
6	chr13:48685200-48687200	Enhancers	Right Atrium	heart
7	chr13:48685600-48686800	Weak transcription	Placenta	Placenta
8	chr13:48685800-48686800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:48685800-48687200	Weak transcription	NH-A	brain
10	chr13:48685800-48687400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:48686000-48687000	Weak transcription	HMEC	breast
12	chr13:48686000-48687200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:48686000-48687400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:48686200-48687600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:48686200-48687600	Weak transcription	Brain Angular Gyrus	brain
16	chr13:48686400-48687400	Weak transcription	Hela-S3	cervix
17	chr13:48686600-48700000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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