Variant report

Variant	rs11775254
Chromosome Location	chr8:10913310-10913311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10903337	1.00[ASN][1000 genomes]
rs11774266	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776637	1.00[ASN][1000 genomes]
rs11780798	1.00[ASN][1000 genomes]
rs13248300	1.00[ASN][1000 genomes]
rs13251528	1.00[ASN][1000 genomes]
rs13261031	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264636	1.00[ASN][1000 genomes]
rs13265533	1.00[ASN][1000 genomes]
rs34270982	1.00[ASN][1000 genomes]
rs4407841	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841484	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841486	0.93[EUR][1000 genomes]
rs4841487	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6601556	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67841554	1.00[ASN][1000 genomes]
rs7821839	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	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	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11775254	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10907400-10916200	Weak transcription	Brain Germinal Matrix	brain
2	chr8:10911000-10914400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:10911200-10914400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:10911200-10914400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:10911200-10916400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10911600-10916200	Weak transcription	Brain Anterior Caudate	brain
7	chr8:10911600-10916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:10911800-10913400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:10912600-10913600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:10912600-10916400	Weak transcription	HSMMtube	muscle
11	chr8:10912800-10913600	Enhancers	Lung	lung
12	chr8:10913000-10913600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:10913200-10913400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:10913200-10913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:10913200-10913400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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