Variant report

Variant	rs1822751
Chromosome Location	chr12:20552067-20552068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10734701	1.00[ASN][1000 genomes]
rs10743369	1.00[ASN][1000 genomes]
rs10770655	0.83[CEU][hapmap];1.00[ASN][1000 genomes]
rs10841515	1.00[ASN][1000 genomes]
rs12370696	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1373572	1.00[ASN][1000 genomes]
rs1373573	1.00[ASN][1000 genomes]
rs1444630	0.83[CEU][hapmap]
rs1444631	0.86[CEU][hapmap];1.00[ASN][1000 genomes]
rs1444633	0.93[CEU][hapmap];1.00[ASN][1000 genomes]
rs1444641	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1530445	1.00[ASN][1000 genomes]
rs1822752	1.00[ASN][1000 genomes]
rs1822753	0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs1822756	1.00[ASN][1000 genomes]
rs2417850	1.00[ASN][1000 genomes]
rs3919734	1.00[ASN][1000 genomes]
rs4762752	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4762950	0.84[EUR][1000 genomes]
rs4762951	1.00[ASN][1000 genomes]
rs5007546	1.00[ASN][1000 genomes]
rs5014038	1.00[ASN][1000 genomes]
rs7133921	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7299430	0.94[CEU][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7964191	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964703	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979838	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
2	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
3	chr12:20544000-20556000	Weak transcription	Osteobl	bone
4	chr12:20544800-20555800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20548200-20556000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:20549000-20553200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:20549000-20555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:20549400-20555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:20549400-20557800	Weak transcription	Right Ventricle	heart
10	chr12:20550400-20552800	Weak transcription	Fetal Heart	heart
11	chr12:20550400-20568200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:20551000-20552200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:20551000-20552400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:20551600-20556200	Weak transcription	HUVEC	blood vessel
15	chr12:20551800-20552400	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr12:20551800-20553000	Genic enhancers	Hela-S3	cervix
17	chr12:20552000-20555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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