Variant report

Variant	rs2454015
Chromosome Location	chr8:104108882-104108883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2101928	0.86[JPT][hapmap]
rs2388492	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2454016	0.87[AFR][1000 genomes]
rs2454017	0.87[AFR][1000 genomes]
rs2454018	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2454020	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2454021	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2454023	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2454025	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2454026	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2515212	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3019170	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979670	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs979672	0.85[AMR][1000 genomes];0.87[ASN][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	nsv831413	chr8:104085141-104269789	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv891247	chr8:104090979-104121862	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv521033	chr8:104093359-104110575	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2454015	PABPC1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104092400-104121600	Weak transcription	Right Atrium	heart
2	chr8:104107800-104110000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr8:104108400-104109400	Enhancers	GM12878-XiMat	blood
4	chr8:104108400-104109400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:104108400-104109600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:104108600-104109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:104108600-104109600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:104108800-104109200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:104108800-104109400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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