Variant report

Variant	rs520868
Chromosome Location	chr11:121082988-121082989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11604100	0.87[ASN][1000 genomes]
rs12278110	0.98[ASN][1000 genomes]
rs1231418	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588209	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612804	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	esv2761715	chr11:121073605-121083183	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121077800-121084000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:121078600-121083200	Weak transcription	HSMMtube	muscle
3	chr11:121078800-121084000	Weak transcription	Liver	Liver
4	chr11:121081600-121083200	Weak transcription	GM12878-XiMat	blood
5	chr11:121082400-121084200	Enhancers	HSMM	muscle
6	chr11:121082600-121083400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:121082600-121083400	Enhancers	Brain Germinal Matrix	brain
8	chr11:121082600-121083800	Weak transcription	Fetal Heart	heart

Quick Search:

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

what's new

Quick links