Variant report

Variant	rs1408060
Chromosome Location	chr13:76289980-76289981
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1092601	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1323712	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1535730	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1924214	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2025354	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2328953	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2328954	0.84[AMR][1000 genomes]
rs2328956	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761398	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34545980	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs479824	0.80[EUR][1000 genomes]
rs480929	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4885345	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs504273	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs508596	0.84[AMR][1000 genomes]
rs528783	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs560069	0.81[AMR][1000 genomes]
rs585233	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs607095	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs634729	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs636505	0.81[EUR][1000 genomes]
rs636580	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7336908	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs776527	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7986141	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8002635	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9530463	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9544028	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9544029	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9544034	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9544035	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9573627	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9573636	0.80[AMR][1000 genomes]
rs9573647	0.81[AMR][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	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76259600-76294400	Weak transcription	Ovary	ovary
2	chr13:76279400-76308000	Weak transcription	Left Ventricle	heart
3	chr13:76283600-76308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:76286600-76291800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:76286600-76292600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:76287800-76292600	Enhancers	Hela-S3	cervix
7	chr13:76288000-76290600	Enhancers	HSMMtube	muscle
8	chr13:76288000-76291200	Weak transcription	Placenta	Placenta
9	chr13:76288200-76297800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:76288600-76291000	Genic enhancers	HSMM	muscle
11	chr13:76288800-76290000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:76288800-76290000	Weak transcription	Fetal Lung	lung
13	chr13:76289000-76290200	Weak transcription	NH-A	brain
14	chr13:76289000-76290400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:76289000-76292000	Genic enhancers	NHDF-Ad	bronchial
16	chr13:76289200-76290600	Enhancers	NHLF	lung
17	chr13:76289200-76294600	Weak transcription	Stomach Mucosa	stomach
18	chr13:76289400-76290200	Enhancers	Primary hematopoietic stem cells	blood
19	chr13:76289400-76290600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr13:76289400-76290600	Enhancers	GM12878-XiMat	blood
21	chr13:76289600-76290400	Enhancers	Osteobl	bone
22	chr13:76289600-76290600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:76289600-76290800	Enhancers	NHEK	skin
24	chr13:76289800-76290200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr13:76289800-76290200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:76289800-76290200	Enhancers	Fetal Heart	heart
27	chr13:76289800-76290400	Enhancers	Fetal Intestine Large	intestine
28	chr13:76289800-76290400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr13:76289800-76290600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr13:76289800-76290600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:76289800-76290600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr13:76289800-76290600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr13:76289800-76290800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr13:76289800-76290800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:76289800-76290800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:76289800-76290800	Enhancers	HMEC	breast
37	chr13:76289800-76292200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:76289800-76292600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr13:76289800-76292800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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