Variant report

Variant	rs7566729
Chromosome Location	chr2:12156740-12156741
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1036670	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12471493	0.82[ASN][1000 genomes]
rs13007105	0.87[ASN][1000 genomes]
rs2380405	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6432249	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6432250	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6744092	0.85[ASN][1000 genomes]
rs751578	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751579	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560369	0.82[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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12155000-12158600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:12155000-12158600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr2:12155000-12159200	Weak transcription	Primary B cells from cord blood	blood
4	chr2:12155000-12164000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:12155200-12157800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:12155400-12157800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:12155400-12159800	Weak transcription	HSMMtube	muscle
8	chr2:12156400-12157000	Enhancers	Spleen	Spleen
9	chr2:12156600-12156800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:12156600-12157400	Weak transcription	Fetal Brain Female	brain

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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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