Variant report

Variant	rs9530928
Chromosome Location	chr13:80083199-80083200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11549502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11619563	0.94[AMR][1000 genomes]
rs11838769	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12146935	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs17431002	0.81[EUR][1000 genomes]
rs4884132	0.97[EUR][1000 genomes]
rs4885635	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885639	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885641	0.81[EUR][1000 genomes]
rs73234683	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73234690	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73235960	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7399942	0.82[EUR][1000 genomes]
rs7983288	0.94[EUR][1000 genomes]
rs7983516	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7990729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7991663	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530926	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530927	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9530933	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9530935	0.82[EUR][1000 genomes]
rs9530936	0.81[EUR][1000 genomes]
rs9545115	0.94[AMR][1000 genomes]
rs9545119	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9545126	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545129	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545130	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9545132	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545140	0.82[EUR][1000 genomes]
rs9545141	0.82[EUR][1000 genomes]
rs9545143	0.81[EUR][1000 genomes]
rs9545144	0.82[EUR][1000 genomes]
rs958316	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs983927	0.94[AFR][1000 genomes];0.94[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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv523979	chr13:79979679-80120263	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv916983	chr13:80065879-80249702	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80064800-80084800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:80066800-80084000	Weak transcription	Pancreas	Pancrea
3	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
4	chr13:80067200-80095000	Weak transcription	HSMM	muscle
5	chr13:80070600-80096600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
7	chr13:80076200-80093200	Weak transcription	HMEC	breast
8	chr13:80077600-80088800	Weak transcription	Brain Angular Gyrus	brain
9	chr13:80077600-80095600	Weak transcription	Fetal Intestine Large	intestine
10	chr13:80077800-80089000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr13:80078000-80097200	Weak transcription	Psoas Muscle	Psoas
12	chr13:80078000-80097800	Weak transcription	Ovary	ovary
13	chr13:80078200-80088600	Weak transcription	Fetal Heart	heart
14	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
15	chr13:80078800-80085800	Enhancers	Dnd41	blood
16	chr13:80079600-80086600	Weak transcription	Gastric	stomach
17	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:80082200-80083200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:80082400-80083400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr13:80082600-80083400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr13:80082600-80083400	Enhancers	Left Ventricle	heart
22	chr13:80082600-80083400	Enhancers	NHEK	skin
23	chr13:80082800-80083200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:80082800-80083400	Enhancers	Right Atrium	heart
25	chr13:80082800-80083600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr13:80082800-80092400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:80082800-80096600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr13:80082800-80096600	Weak transcription	Lung	lung
29	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:80083000-80087400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:80083000-80088800	Weak transcription	Small Intestine	intestine
32	chr13:80083000-80095200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach

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