Variant report

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11684649	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12463652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12472189	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12475450	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12477784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1439685	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1439688	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1583756	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17016806	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17016866	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17400673	0.85[EUR][1000 genomes]
rs28876727	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62145360	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62145361	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62145380	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs62145381	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs62145382	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs62146651	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62146652	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62148571	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559001	chr12:55507465-56057708	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56040400-56048400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56040800-56046800	Weak transcription	Stomach Mucosa	stomach
3	chr12:56041200-56048400	Weak transcription	Lung	lung
4	chr12:56043200-56047000	Enhancers	Fetal Intestine Large	intestine
5	chr12:56045000-56047000	Enhancers	Fetal Intestine Small	intestine
6	chr12:56045400-56048600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:56045400-56050200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr12:56045600-56049200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:56045800-56046400	Enhancers	Duodenum Mucosa	Duodenum
10	chr12:56045800-56050800	Weak transcription	HepG2	liver
11	chr12:56046000-56046600	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:56046000-56047200	Enhancers	Primary T helper cells PMA-I stimulated	--

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