Variant report

Variant	rs12489852
Chromosome Location	chr3:156999617-156999618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:156997473..157000192-chr3:157001265..157003413,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10428149	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10936082	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11709487	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12490031	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12491378	0.81[EUR][1000 genomes]
rs12496692	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1500926	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17388505	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34650246	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003856	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56375731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61068670	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61473987	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62279638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62279639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62279641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62281371	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62281372	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62281373	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441125	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67643214	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6769039	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793166	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73154694	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864194	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829766	chr3:156811536-157020551	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv877687	chr3:156924793-157044184	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:156967200-157000000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:156967200-157000000	Weak transcription	NH-A	brain
3	chr3:156967200-157007800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:156988000-157005800	Weak transcription	Pancreas	Pancrea
5	chr3:156989400-156999800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:156992600-157000200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:156994000-157000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:156997000-157000400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:156997000-157001000	Enhancers	Osteobl	bone
10	chr3:156997000-157004400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:156997600-157003600	Weak transcription	K562	blood
12	chr3:156997800-156999800	Enhancers	NHDF-Ad	bronchial
13	chr3:156998000-157000600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:156998200-157000400	Enhancers	HUVEC	blood vessel
15	chr3:156998400-157001800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:156998800-157000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:156998800-157002000	Enhancers	NHLF	lung
18	chr3:156998800-157006000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:156999000-157000200	Weak transcription	Brain Anterior Caudate	brain
20	chr3:156999000-157000400	Weak transcription	Adipose Nuclei	Adipose
21	chr3:156999600-157000400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:156999600-157000600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:156999600-157001200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr3:156999600-157001200	Enhancers	HSMM	muscle
25	chr3:156999600-157003800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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