Variant report

Variant	rs2514667
Chromosome Location	chr8:105358590-105358591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12681140	0.94[ASN][1000 genomes]
rs1812214	0.94[ASN][1000 genomes]
rs2458413	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2458414	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2669450	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7010076	0.85[AMR][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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105349400-105358800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:105351800-105361200	Weak transcription	NHDF-Ad	bronchial
3	chr8:105355400-105360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:105356000-105360600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:105356200-105364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:105357600-105359400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:105357600-105365000	Weak transcription	Right Atrium	heart
8	chr8:105358200-105358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:105358200-105362000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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