Variant report

Variant	rs12961452
Chromosome Location	chr18:13321817-13321818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1107341	0.83[ASN][1000 genomes]
rs12456859	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12959077	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12959091	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12969364	0.84[ASN][1000 genomes]
rs1454128	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16940349	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17681406	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1869496	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1869497	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2085048	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2085050	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2187501	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2187502	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2867874	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2867875	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4302113	0.86[ASN][1000 genomes]
rs4570935	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4606791	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55882226	0.90[EUR][1000 genomes]
rs59149409	0.88[ASN][1000 genomes]
rs6505808	0.81[ASN][1000 genomes]
rs7226901	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7230643	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7231701	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7234501	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7234675	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7236152	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7237181	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7241109	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7241410	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7241438	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7242207	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7242230	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8087505	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8092304	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs897035	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9303783	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs930797	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs930798	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs930799	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs949259	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9947830	0.85[ASN][1000 genomes]
rs9948620	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9952836	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9957335	0.82[ASN][1000 genomes]
rs9963572	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13314800-13325000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr18:13316600-13322600	Weak transcription	Dnd41	blood
3	chr18:13317000-13326400	Weak transcription	Brain Angular Gyrus	brain
4	chr18:13317200-13322000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr18:13317200-13323200	Weak transcription	Brain Germinal Matrix	brain
6	chr18:13317400-13331200	Weak transcription	Primary T cells from cord blood	blood
7	chr18:13318800-13325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:13319400-13327200	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:13319800-13327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr18:13320400-13338200	Weak transcription	Small Intestine	intestine
11	chr18:13320800-13322000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr18:13320800-13323200	Weak transcription	Brain Anterior Caudate	brain
13	chr18:13321000-13322600	Weak transcription	Aorta	Aorta
14	chr18:13321000-13323000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:13321000-13323200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:13321000-13326200	Weak transcription	Fetal Brain Female	brain
17	chr18:13321200-13322800	Weak transcription	Fetal Thymus	thymus
18	chr18:13321200-13323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr18:13321200-13327000	Weak transcription	Right Atrium	heart
20	chr18:13321200-13329600	Weak transcription	Fetal Heart	heart
21	chr18:13321200-13336000	Weak transcription	Left Ventricle	heart
22	chr18:13321400-13322800	Weak transcription	Thymus	Thymus
23	chr18:13321400-13324600	Weak transcription	Fetal Lung	lung
24	chr18:13321400-13328000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr18:13321800-13322600	Weak transcription	Right Ventricle	heart

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