Variant report

Variant	rs17284820
Chromosome Location	chr12:86531922-86531923
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10506927	0.92[CEU][hapmap]
rs10506928	1.00[CEU][hapmap]
rs10506931	0.91[CEU][hapmap]
rs10779233	0.92[CEU][hapmap]
rs10863163	0.93[CEU][hapmap]
rs12298174	0.92[CEU][hapmap]
rs12305255	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs12306726	0.83[CEU][hapmap];0.82[EUR][1000 genomes]
rs12307279	0.83[CEU][hapmap]
rs12308575	0.91[CEU][hapmap]
rs12313444	0.92[CEU][hapmap]
rs12321159	0.92[CEU][hapmap]
rs1389296	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1552840	0.85[CEU][hapmap]
rs17284129	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17284484	1.00[CEU][hapmap]
rs17284624	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17285589	0.85[CEU][hapmap]
rs17357025	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17357233	0.93[CEU][hapmap]
rs17357259	0.91[CEU][hapmap]
rs17357469	0.92[CEU][hapmap]
rs4586245	0.86[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4842454	0.91[CEU][hapmap]
rs4842468	0.85[CEU][hapmap]
rs4842541	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4842557	0.85[CEU][hapmap]
rs4842558	0.91[CEU][hapmap]
rs55832610	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55886852	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55998036	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56154427	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57624840	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58024273	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59623111	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61931157	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61932264	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61932265	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61932266	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61932268	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61932269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61932270	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61932271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61932272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61932274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61932275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61948967	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61948994	0.84[EUR][1000 genomes]
rs61949011	1.00[AFR][1000 genomes]
rs61949013	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61949036	0.84[EUR][1000 genomes]
rs61949037	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61949038	1.00[AFR][1000 genomes]
rs61949039	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs61949041	1.00[AFR][1000 genomes]
rs7136697	0.93[CEU][hapmap]
rs7486522	0.93[CEU][hapmap]
rs7487426	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv470311	chr12:86484366-86550783	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3442004	chr12:86514695-86599965	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2753278	chr12:86522507-86555154	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86529800-86538800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:86530400-86538800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:86531000-86532800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:86531000-86532800	Enhancers	NHEK	skin
5	chr12:86531200-86532000	Enhancers	NH-A	brain
6	chr12:86531200-86532200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:86531200-86533000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:86531200-86533000	Enhancers	HUVEC	blood vessel
9	chr12:86531400-86532000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:86531400-86532000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:86531400-86532000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:86531400-86532000	Enhancers	Hela-S3	cervix
13	chr12:86531400-86532200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:86531400-86532800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:86531400-86532800	Enhancers	HMEC	breast
16	chr12:86531400-86532800	Enhancers	HSMM	muscle
17	chr12:86531600-86532200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:86531600-86533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:86531800-86532000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:86531800-86532200	Enhancers	A549	lung
21	chr12:86531800-86534200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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