Variant report

Variant	rs2618450
Chromosome Location	chr8:11376790-11376791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10108511	1.00[JPT][hapmap]
rs1042701	1.00[JPT][hapmap]
rs2127127	1.00[JPT][hapmap]
rs2252534	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2252797	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2293857	1.00[JPT][hapmap]
rs2409782	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2409798	1.00[JPT][hapmap]
rs2618443	1.00[JPT][hapmap];0.82[MKK][hapmap];0.95[ASN][1000 genomes]
rs2618445	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2618446	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2618451	1.00[CHD][hapmap]
rs2729940	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2736364	1.00[ASN][1000 genomes]
rs6983727	1.00[JPT][hapmap]
rs7005030	0.95[CEU][hapmap];0.83[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7464263	1.00[JPT][hapmap]
rs7822958	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022074	chr8:11292256-11394526	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2618450	TDH	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11357400-11380000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr8:11372200-11386000	Weak transcription	Spleen	Spleen
3	chr8:11374000-11376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:11374800-11381800	Weak transcription	HUVEC	blood vessel
5	chr8:11375800-11377000	Weak transcription	Primary B cells from cord blood	blood
6	chr8:11375800-11377200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:11376000-11376800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:11376000-11377400	ZNF genes & repeats	GM12878-XiMat	blood
9	chr8:11376200-11382000	Weak transcription	Fetal Thymus	thymus
10	chr8:11376600-11382200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	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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