Variant report

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

rs_ID	r²[population]
rs10047560	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743375	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743376	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314380	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809512	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12822543	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34047692	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35521901	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751737	1.00[ASN][1000 genomes]
rs57181023	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57609359	1.00[ASN][1000 genomes]
rs59656175	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60526859	1.00[ASN][1000 genomes]
rs61338273	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61553836	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7137427	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304649	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312861	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313578	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973420	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
2	chr12:20642400-20660000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:20643400-20650800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:20644400-20650000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:20645600-20656800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:20645600-20658600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:20647000-20660600	Weak transcription	Left Ventricle	heart
8	chr12:20647200-20664000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:20648200-20652400	Weak transcription	HUVEC	blood vessel
10	chr12:20648200-20656800	Weak transcription	Hela-S3	cervix
11	chr12:20648200-20660800	Weak transcription	Aorta	Aorta
12	chr12:20648400-20657000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:20649200-20650600	Weak transcription	A549	lung
14	chr12:20649200-20653200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:20649400-20650000	Enhancers	Fetal Heart	heart
16	chr12:20649400-20651000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:20649600-20660600	Weak transcription	Right Ventricle	heart
18	chr12:20649600-20662000	Weak transcription	Pancreas	Pancrea

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