Variant report

Variant	rs891540
Chromosome Location	chr8:125742308-125742309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11780771	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270040	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13270049	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871534	0.82[JPT][hapmap]
rs6470269	0.81[JPT][hapmap]
rs6986404	0.82[JPT][hapmap]
rs733759	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7841287	0.82[JPT][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv612147	chr8:125733120-125751065	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs891540	RCBTB1	trans	parietal	SCAN
rs891540	MTSS1	cis	lymphoblastoid	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125739000-125743400	Weak transcription	K562	blood
2	chr8:125741000-125743600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:125741200-125742400	Enhancers	Spleen	Spleen
4	chr8:125741200-125742600	Enhancers	Fetal Muscle Leg	muscle
5	chr8:125741200-125744000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:125741200-125746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:125741400-125742400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:125741400-125743600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:125741400-125747000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr8:125741600-125742600	Enhancers	Fetal Brain Female	brain
11	chr8:125741600-125743000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:125741600-125743200	Enhancers	Brain Germinal Matrix	brain
13	chr8:125741600-125743600	Weak transcription	Placenta	Placenta
14	chr8:125741600-125746800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:125741600-125748400	Weak transcription	Psoas Muscle	Psoas
16	chr8:125742200-125742600	Enhancers	Brain Cingulate Gyrus	brain

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

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