Variant report

Variant	rs1830760
Chromosome Location	chr13:76296625-76296626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1092601	0.84[EUR][1000 genomes]
rs1323710	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1323712	0.88[EUR][1000 genomes]
rs1924214	0.85[EUR][1000 genomes]
rs2025354	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2328953	0.86[EUR][1000 genomes]
rs2328954	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2328956	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2761398	0.86[EUR][1000 genomes]
rs34545980	0.84[EUR][1000 genomes]
rs479824	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs480929	0.87[EUR][1000 genomes]
rs4885345	0.85[EUR][1000 genomes]
rs502171	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs504273	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs508596	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs528783	0.85[EUR][1000 genomes]
rs560069	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs562940	0.83[AMR][1000 genomes]
rs585233	0.85[EUR][1000 genomes]
rs603274	0.81[AMR][1000 genomes]
rs607095	0.86[EUR][1000 genomes]
rs61958148	0.85[ASN][1000 genomes]
rs626182	0.82[EUR][1000 genomes]
rs634729	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636505	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636580	0.85[EUR][1000 genomes]
rs7324353	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7331527	0.88[ASN][1000 genomes]
rs776527	0.85[EUR][1000 genomes]
rs7999158	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9530463	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9544034	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9544035	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9600533	0.83[AMR][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	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76279400-76308000	Weak transcription	Left Ventricle	heart
2	chr13:76283600-76308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76288200-76297800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:76290600-76298000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:76290600-76298200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:76290600-76298200	Weak transcription	Aorta	Aorta
7	chr13:76290600-76298400	Weak transcription	Fetal Lung	lung
8	chr13:76290800-76299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:76291600-76298000	Strong transcription	HSMM	muscle
10	chr13:76291800-76297200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:76292400-76297200	Strong transcription	Osteobl	bone
12	chr13:76292600-76297000	Weak transcription	Hela-S3	cervix
13	chr13:76292800-76297800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:76293800-76298000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:76294000-76300200	Weak transcription	HSMMtube	muscle
16	chr13:76294400-76297800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:76294400-76299000	Weak transcription	NHLF	lung
18	chr13:76294800-76297800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr13:76294800-76321800	Weak transcription	NH-A	brain
20	chr13:76295000-76297600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:76295000-76297600	Weak transcription	NHDF-Ad	bronchial
22	chr13:76295000-76298000	Weak transcription	Stomach Mucosa	stomach

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