Variant report

Variant	rs12369593
Chromosome Location	chr12:20607748-20607749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11045260	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11045265	0.91[EUR][1000 genomes]
rs12366354	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487089	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7488017	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 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	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20599000-20609600	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:20602000-20609000	Enhancers	Fetal Intestine Large	intestine
5	chr12:20602800-20610000	Enhancers	Fetal Intestine Small	intestine
6	chr12:20603800-20608000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:20604000-20608000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:20605000-20613000	Weak transcription	Aorta	Aorta
10	chr12:20605200-20608200	Weak transcription	Fetal Heart	heart
11	chr12:20605400-20608200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:20605800-20611400	Weak transcription	Small Intestine	intestine
13	chr12:20606000-20608200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:20606000-20612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:20606000-20616600	Weak transcription	A549	lung
16	chr12:20606200-20609400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:20606400-20612800	Weak transcription	Left Ventricle	heart
18	chr12:20606800-20607800	Enhancers	Right Ventricle	heart
19	chr12:20607400-20608400	Weak transcription	NHDF-Ad	bronchial
20	chr12:20607400-20608400	Weak transcription	Osteobl	bone
21	chr12:20607400-20610600	Weak transcription	Hela-S3	cervix
22	chr12:20607600-20608200	Enhancers	Fetal Kidney	kidney

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