Variant report

Variant	rs12480651
Chromosome Location	chr20:24766320-24766321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs226680	1.00[JPT][hapmap]
rs226681	1.00[JPT][hapmap]
rs4813538	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4813539	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4813540	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4815303	0.88[EUR][1000 genomes]
rs4815308	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4815312	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4815315	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56103836	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6036904	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6036910	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6036911	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6049933	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6049943	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6049956	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6049971	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6049976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6049977	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6049978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6049983	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61059580	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114868	1.00[CEU][hapmap]
rs7264934	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7271933	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73335420	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335440	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73335460	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73612620	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs743191	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332519	chr20:24535099-24815615	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1061412	chr20:24629468-24887869	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv544216	chr20:24629468-24887869	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1061281	chr20:24711635-24815107	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv544217	chr20:24711635-24815107	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv912825	chr20:24715544-24813345	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1061455	chr20:24733120-24861801	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv544218	chr20:24733120-24861801	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1059270	chr20:24741923-24787243	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24757800-24766600	Enhancers	Fetal Thymus	thymus
2	chr20:24758400-24766800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr20:24758800-24767400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr20:24759800-24767000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:24762200-24767000	Enhancers	Dnd41	blood
6	chr20:24762800-24766400	Enhancers	Thymus	Thymus
7	chr20:24762800-24766600	Enhancers	Primary hematopoietic stem cells	blood
8	chr20:24763400-24767000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:24764000-24770000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:24764400-24767000	Enhancers	Lung	lung
11	chr20:24764600-24770000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr20:24765000-24768000	Enhancers	Placenta	Placenta
13	chr20:24765200-24766600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr20:24765200-24766600	Enhancers	Fetal Muscle Leg	muscle
15	chr20:24765200-24766800	Enhancers	HSMMtube	muscle
16	chr20:24765600-24766400	Enhancers	Fetal Kidney	kidney
17	chr20:24765600-24766400	Enhancers	Fetal Stomach	stomach
18	chr20:24765600-24766800	Enhancers	NH-A	brain
19	chr20:24765600-24767000	Enhancers	HSMM	muscle
20	chr20:24765800-24766400	Enhancers	HMEC	breast
21	chr20:24765800-24766600	Enhancers	NHEK	skin
22	chr20:24765800-24766800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:24765800-24766800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:24765800-24767200	Enhancers	Fetal Muscle Trunk	muscle
25	chr20:24766000-24766600	Enhancers	Osteobl	bone
26	chr20:24766000-24766800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr20:24766000-24766800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr20:24766000-24767000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr20:24766200-24766600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr20:24766200-24767000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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