Variant report

Variant	rs1427494
Chromosome Location	chr2:145437628-145437629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1019718	0.89[AMR][1000 genomes]
rs10928225	0.88[AFR][1000 genomes]
rs1351734	0.88[AFR][1000 genomes]
rs1365904	0.89[AMR][1000 genomes]
rs1427495	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1593721	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2114735	0.88[AMR][1000 genomes]
rs2625588	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707047	0.81[AFR][1000 genomes]
rs934011	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs963393	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145423000-145440600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:145433000-145438800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr2:145434000-145438600	Weak transcription	HMEC	breast
4	chr2:145434000-145439000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:145434200-145438600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:145434200-145439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:145434400-145438400	Weak transcription	NHEK	skin
8	chr2:145436000-145438600	Enhancers	Primary B cells from cord blood	blood
9	chr2:145436000-145439400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:145436200-145438600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:145436200-145439400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:145436600-145440800	Weak transcription	Fetal Kidney	kidney
13	chr2:145437000-145438000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:145437400-145438000	Enhancers	Primary B cells from peripheral blood	blood

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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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