Variant report

Variant	rs59521087
Chromosome Location	chr12:32934114-32934115
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1454931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16920143	1.00[AMR][1000 genomes]
rs4511366	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56686514	0.86[AFR][1000 genomes]
rs58332051	0.86[AFR][1000 genomes]
rs61055118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61669309	0.90[AFR][1000 genomes]
rs73299928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299935	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299937	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73299947	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301713	0.86[AFR][1000 genomes]
rs73301753	0.86[AFR][1000 genomes]
rs73301775	0.86[AFR][1000 genomes]
rs73301781	0.86[AFR][1000 genomes]
rs73301783	0.86[AFR][1000 genomes]
rs73301801	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1851844	chr12:32929596-32953032	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32925000-32938600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32929400-32937200	Weak transcription	NHEK	skin
3	chr12:32929400-32942200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:32929600-32941600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:32929800-32941200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:32929800-32941600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:32931400-32942200	Weak transcription	Left Ventricle	heart
8	chr12:32932000-32934200	Enhancers	Fetal Lung	lung
9	chr12:32932600-32934200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:32932800-32935800	Weak transcription	Fetal Heart	heart
11	chr12:32933200-32944800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:32933400-32935200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:32934000-32934200	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr12:32934000-32934200	Enhancers	Ovary	ovary
15	chr12:32934000-32944000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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