Variant report

Variant	rs7230643
Chromosome Location	chr18:13318555-13318556
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10084046	0.88[ASN][1000 genomes]
rs11080642	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11662722	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12959077	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12959091	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12961452	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16940349	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1840267	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1869496	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1869497	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2085048	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2085050	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2187501	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2187502	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2276392	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2867874	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2867875	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2867876	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4570934	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4570935	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4606791	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55882226	0.85[EUR][1000 genomes]
rs6505798	0.82[ASN][1000 genomes]
rs6505802	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6505803	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7226901	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7231366	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7231701	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7234501	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7234675	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7236152	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7236934	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7237181	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7241109	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7241410	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7241438	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7242024	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7242140	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7242207	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7242230	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8087505	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8094197	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9303783	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs930797	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930798	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs930799	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs949259	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9952682	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9953274	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9954359	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9963572	0.88[AMR][1000 genomes];0.94[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13303200-13318600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr18:13303200-13318600	Weak transcription	Right Atrium	heart
3	chr18:13303600-13318600	Weak transcription	Colon Smooth Muscle	Colon
4	chr18:13310600-13318600	Weak transcription	Right Ventricle	heart
5	chr18:13314800-13325000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr18:13315200-13319200	Weak transcription	Spleen	Spleen
7	chr18:13316400-13318600	Weak transcription	Fetal Heart	heart
8	chr18:13316400-13318600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:13316600-13319000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:13316600-13319000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr18:13316600-13322600	Weak transcription	Dnd41	blood
12	chr18:13316800-13318600	Weak transcription	Aorta	Aorta
13	chr18:13316800-13318600	Weak transcription	Left Ventricle	heart
14	chr18:13316800-13318600	Weak transcription	Thymus	Thymus
15	chr18:13316800-13320200	Weak transcription	Small Intestine	intestine
16	chr18:13316800-13320600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:13317000-13326400	Weak transcription	Brain Angular Gyrus	brain
18	chr18:13317200-13318800	Weak transcription	Fetal Stomach	stomach
19	chr18:13317200-13320400	Weak transcription	Fetal Thymus	thymus
20	chr18:13317200-13322000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr18:13317200-13323200	Weak transcription	Brain Germinal Matrix	brain
22	chr18:13317400-13331200	Weak transcription	Primary T cells from cord blood	blood

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