Variant report

Variant	rs9530932
Chromosome Location	chr13:80097417-80097418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80088753..80091957-chr13:80093652..80097974,3	K562	blood:
2	chr13:80096791..80099230-chr13:80099804..80101377,2	K562	blood:

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

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

rs_ID	r²[population]
rs11549502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11619563	0.94[AMR][1000 genomes]
rs11838769	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12146935	0.88[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73235960	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7399942	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7983288	0.97[EUR][1000 genomes]
rs7983516	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7990729	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
rs9530928	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9530933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9530935	0.84[EUR][1000 genomes]
rs9530936	0.81[EUR][1000 genomes]
rs9545115	0.94[AMR][1000 genomes]
rs9545119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9545126	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545127	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9545129	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9545132	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9545140	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9545141	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9545143	0.81[EUR][1000 genomes]
rs9545144	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs958316	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs983927	0.88[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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80066800-80122800	Weak transcription	Esophagus	oesophagus
2	chr13:80076000-80099200	Weak transcription	Hela-S3	cervix
3	chr13:80078000-80097800	Weak transcription	Ovary	ovary
4	chr13:80078200-80102000	Weak transcription	Right Ventricle	heart
5	chr13:80079600-80098200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr13:80082800-80108000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:80083000-80120000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:80083000-80122800	Weak transcription	Stomach Mucosa	stomach
9	chr13:80086800-80098400	Weak transcription	Brain Substantia Nigra	brain
10	chr13:80087400-80134000	Weak transcription	Aorta	Aorta
11	chr13:80087400-80134600	Weak transcription	Pancreas	Pancrea
12	chr13:80089200-80098800	Weak transcription	Brain Angular Gyrus	brain
13	chr13:80089400-80097800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr13:80089400-80098800	Weak transcription	Brain Anterior Caudate	brain
15	chr13:80089400-80098800	Weak transcription	Brain Hippocampus Middle	brain
16	chr13:80089400-80099200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:80089400-80118400	Weak transcription	Small Intestine	intestine
18	chr13:80090600-80112000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:80090800-80103400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:80091000-80099200	Weak transcription	K562	blood
21	chr13:80091400-80108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr13:80091600-80097800	Weak transcription	Fetal Heart	heart
23	chr13:80091600-80097800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:80092200-80109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr13:80092400-80099200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr13:80092400-80102000	Weak transcription	Colonic Mucosa	Colon
27	chr13:80093000-80110200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr13:80093400-80097800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr13:80093400-80097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr13:80093400-80098400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr13:80093400-80104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr13:80093400-80112800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:80093600-80098400	Weak transcription	Fetal Muscle Leg	muscle
34	chr13:80093600-80108200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:80093800-80098000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr13:80093800-80099000	Weak transcription	A549	lung
37	chr13:80093800-80104400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr13:80093800-80109800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr13:80094800-80097600	Weak transcription	Brain Germinal Matrix	brain
40	chr13:80094800-80098800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:80095000-80098000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr13:80095000-80098600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:80095000-80098600	Strong transcription	Placenta	Placenta
44	chr13:80095000-80099200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:80095000-80099600	Strong transcription	Adipose Nuclei	Adipose
46	chr13:80095000-80099800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr13:80095000-80100400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:80095000-80100600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr13:80095000-80101800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:80095000-80102800	Strong transcription	Rectal Mucosa Donor 29	rectum

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