Variant report

Variant	rs2014326
Chromosome Location	chr1:217496981-217496982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1032603	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10495055	0.87[ASN][1000 genomes]
rs1072681	0.97[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11117844	0.81[ASN][1000 genomes]
rs12074270	0.86[ASN][1000 genomes]
rs12136006	0.87[ASN][1000 genomes]
rs12401427	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402940	0.87[ASN][1000 genomes]
rs12406684	0.86[ASN][1000 genomes]
rs12407373	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543967	0.84[ASN][1000 genomes]
rs904217	0.98[AMR][1000 genomes];0.95[ASN][1000 genomes]

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	esv2762164	chr1:217389951-217742750	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1008328	chr1:217473742-217775681	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv832559	chr1:217478801-217655645	Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217495200-217497800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:217495200-217505000	Weak transcription	Aorta	Aorta
3	chr1:217495600-217497600	Enhancers	GM12878-XiMat	blood
4	chr1:217496400-217500200	Enhancers	Fetal Intestine Small	intestine
5	chr1:217496600-217497600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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