Variant report

Variant	rs6049433
Chromosome Location	chr20:24127023-24127024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1009811	0.89[EUR][1000 genomes]
rs127801	0.81[CEU][hapmap]
rs1496400	0.80[CEU][hapmap]
rs17823542	0.80[EUR][1000 genomes]
rs2180377	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2890401	0.80[EUR][1000 genomes]
rs55711894	0.81[EUR][1000 genomes]
rs6049428	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6049429	0.80[EUR][1000 genomes]
rs6049432	0.92[CEU][hapmap]
rs6049434	0.80[EUR][1000 genomes]
rs6049435	0.80[EUR][1000 genomes]
rs6076202	0.89[EUR][1000 genomes]
rs6083394	0.80[EUR][1000 genomes]
rs6083397	0.80[EUR][1000 genomes]
rs7270353	0.82[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs761868	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs761869	0.92[CEU][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	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	esv3328348	chr20:24095746-24285830	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2755330	chr20:24114903-24130700	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6049433	SAC3D1	trans	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24123400-24130800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr20:24123800-24127400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr20:24125000-24129000	Weak transcription	Esophagus	oesophagus
4	chr20:24126400-24128600	Enhancers	Liver	Liver
5	chr20:24126600-24127200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr20:24126600-24127400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:24126600-24127400	Enhancers	Pancreas	Pancrea
8	chr20:24126600-24127400	Enhancers	NHEK	skin
9	chr20:24126800-24127200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr20:24126800-24127200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr20:24126800-24127200	Enhancers	HMEC	breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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