Variant report

Variant	rs2618451
Chromosome Location	chr8:11376266-11376267
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2252797	1.00[CHB][hapmap]
rs2618443	1.00[CHB][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs2618445	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2618450	1.00[CHD][hapmap]
rs2729940	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

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:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2618451	TDH	cis	cerebellum	SCAN
rs2618451	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs2618451	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs2618451	CTSB	cis	cerebellum	SCAN
rs2618451	DEFB134	cis	cerebellum	SCAN
rs2618451	FAM167A	cis	lymphoblastoid	seeQTL
rs2618451	PRSS55	cis	cerebellum	SCAN
rs2618451	BLK	cis	lymphoblastoid	seeQTL
rs2618451	MFHAS1	cis	cerebellum	SCAN
rs2618451	FLJ10661	cis	cerebellum	SCAN

Chromatin state (count:15 , 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	chr8:11373000-11376600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:11374000-11376800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:11374400-11376400	Weak transcription	Osteobl	bone
6	chr8:11374800-11381800	Weak transcription	HUVEC	blood vessel
7	chr8:11375800-11377000	Weak transcription	Primary B cells from cord blood	blood
8	chr8:11375800-11377200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:11376000-11376400	Bivalent Enhancer	Fetal Brain Male	brain
10	chr8:11376000-11376400	Enhancers	Fetal Brain Female	brain
11	chr8:11376000-11376800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:11376000-11377400	ZNF genes & repeats	GM12878-XiMat	blood
13	chr8:11376200-11376400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:11376200-11376400	Bivalent Enhancer	Placenta	Placenta
15	chr8:11376200-11382000	Weak transcription	Fetal Thymus	thymus

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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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