Variant report

Variant	rs8001552
Chromosome Location	chr13:76438034-76438035
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1323562	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1359113	0.81[CEU][hapmap]
rs6562924	0.81[CEU][hapmap]
rs7321447	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7329627	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7986288	0.89[CEU][hapmap];0.80[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7996791	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs9530472	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs9530473	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs9530474	0.93[EUR][1000 genomes]
rs9544057	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8001552	C13orf45	cis	Nerve Tibial	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76417400-76443800	Weak transcription	Fetal Brain Female	brain
2	chr13:76417600-76444600	Weak transcription	HMEC	breast
3	chr13:76417800-76438800	Weak transcription	A549	lung
4	chr13:76424400-76444200	Weak transcription	Fetal Lung	lung
5	chr13:76427400-76440800	Weak transcription	Ovary	ovary
6	chr13:76428000-76444600	Weak transcription	Fetal Kidney	kidney
7	chr13:76428000-76444800	Weak transcription	Esophagus	oesophagus
8	chr13:76428200-76444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:76428400-76444600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:76428400-76444600	Weak transcription	Fetal Heart	heart
11	chr13:76429600-76444600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:76431000-76438400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr13:76431000-76444600	Weak transcription	Aorta	Aorta
14	chr13:76431600-76444600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:76432000-76444600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:76432200-76438800	Weak transcription	HepG2	liver
17	chr13:76432200-76443600	Weak transcription	Primary T cells from cord blood	blood
18	chr13:76432200-76444200	Weak transcription	GM12878-XiMat	blood
19	chr13:76432200-76444600	Weak transcription	Fetal Intestine Small	intestine
20	chr13:76432200-76444600	Weak transcription	Fetal Muscle Leg	muscle
21	chr13:76432200-76444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr13:76433000-76444400	Weak transcription	Liver	Liver
23	chr13:76433400-76444200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:76435000-76439000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:76435000-76443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:76435200-76444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:76435400-76443200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr13:76435600-76444400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76436000-76444000	Weak transcription	Fetal Thymus	thymus
30	chr13:76436600-76438200	Weak transcription	NHLF	lung
31	chr13:76436800-76439200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:76437200-76444600	Weak transcription	HSMMtube	muscle
33	chr13:76437400-76440000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:76437600-76438200	Enhancers	Hela-S3	cervix
35	chr13:76437600-76438200	Genic enhancers	HSMM	muscle
36	chr13:76437600-76440000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:76437800-76440000	Enhancers	Osteobl	bone
38	chr13:76438000-76438200	Enhancers	NH-A	brain
39	chr13:76438000-76444200	Weak transcription	NHDF-Ad	bronchial

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