Variant report

Variant	rs1822755
Chromosome Location	chr12:20542034-20542035
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1444640	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5018301	0.94[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20525600-20543000	Weak transcription	NHDF-Ad	bronchial
2	chr12:20533200-20544800	Weak transcription	Right Atrium	heart
3	chr12:20534600-20542200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:20536800-20542200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:20536800-20542400	Weak transcription	A549	lung
6	chr12:20538200-20550400	Weak transcription	HUVEC	blood vessel
7	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
8	chr12:20540200-20544000	Enhancers	Colon Smooth Muscle	Colon
9	chr12:20540400-20542400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:20540600-20546200	Enhancers	Fetal Intestine Large	intestine
11	chr12:20541200-20543000	Enhancers	Small Intestine	intestine
12	chr12:20541400-20543200	Genic enhancers	Hela-S3	cervix
13	chr12:20541600-20543600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:20541600-20544000	Enhancers	Fetal Heart	heart
15	chr12:20541800-20542200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:20542000-20542200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr12:20542000-20542400	Enhancers	Right Ventricle	heart
18	chr12:20542000-20542600	Enhancers	Aorta	Aorta
19	chr12:20542000-20542800	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr12:20542000-20543000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr12:20542000-20543400	Enhancers	Fetal Intestine Small	intestine
22	chr12:20542000-20543400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:20542000-20543400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:20542000-20544000	Enhancers	Ovary	ovary
25	chr12:20542000-20544200	Enhancers	Adipose Nuclei	Adipose

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