Variant report

Variant	rs6049769
Chromosome Location	chr20:24522251-24522252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs6036834	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.96[EUR][1000 genomes]
rs6049766	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049767	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6049772	1.00[CEU][hapmap];0.82[TSI][hapmap];0.94[EUR][1000 genomes]
rs6049773	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6049776	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6049777	1.00[CEU][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6049769	ACSS1	cis	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24504000-24525800	Weak transcription	Aorta	Aorta
2	chr20:24508200-24523800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr20:24510800-24525200	Weak transcription	Left Ventricle	heart
4	chr20:24514800-24525800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:24515800-24524800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:24516800-24523000	Weak transcription	Brain Hippocampus Middle	brain
7	chr20:24516800-24524200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:24517000-24523800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr20:24517200-24526600	Weak transcription	Brain Substantia Nigra	brain
10	chr20:24517200-24526800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr20:24517400-24524200	Weak transcription	Brain Angular Gyrus	brain
12	chr20:24521200-24528400	Weak transcription	HMEC	breast
13	chr20:24522000-24522400	Enhancers	Primary B cells from cord blood	blood
14	chr20:24522000-24522400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:24522000-24522400	Enhancers	Fetal Thymus	thymus
16	chr20:24522000-24522800	Weak transcription	Brain Anterior Caudate	brain
17	chr20:24522200-24522600	Enhancers	Primary B cells from peripheral blood	blood

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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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