Variant report

Variant	rs6547682
Chromosome Location	chr2:86625121-86625122
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56661459	0.96[AFR][1000 genomes]
rs57165237	0.86[AFR][1000 genomes]
rs58446119	1.00[AFR][1000 genomes]
rs58801770	1.00[AFR][1000 genomes]
rs6547679	0.93[AFR][1000 genomes]
rs6750561	0.93[AFR][1000 genomes]
rs7567955	0.96[AFR][1000 genomes]
rs7606682	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs7606932	0.93[AFR][1000 genomes]
rs7607280	0.90[AFR][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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6547682	PRPF6	trans	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86621600-86631000	Weak transcription	Gastric	stomach
2	chr2:86622000-86625200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:86623600-86626000	Weak transcription	HSMM	muscle
4	chr2:86623600-86627000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:86623800-86626200	Weak transcription	Aorta	Aorta
6	chr2:86623800-86626400	Weak transcription	Psoas Muscle	Psoas
7	chr2:86624600-86625400	Enhancers	Left Ventricle	heart
8	chr2:86624800-86625600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:86625000-86625400	Flanking Active TSS	K562	blood
10	chr2:86625000-86628000	Enhancers	HSMMtube	muscle

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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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