Variant report

Variant	rs12693381
Chromosome Location	chr2:185466909-185466910
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10197925	0.91[CEU][hapmap];0.83[CHB][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10203158	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1021043	0.86[CEU][hapmap];0.83[CHB][hapmap]
rs12693383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12693384	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13026742	0.86[JPT][hapmap]
rs13393273	0.95[CEU][hapmap];0.83[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13405270	0.91[EUR][1000 genomes]
rs17430600	0.95[CEU][hapmap];0.83[CHB][hapmap]
rs2369595	0.82[JPT][hapmap]
rs359891	0.81[AFR][1000 genomes]
rs359892	0.91[CEU][hapmap];0.83[CHB][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs359895	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs430040	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs435822	0.95[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7608194	0.91[CEU][hapmap];0.83[CHB][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7608284	0.91[CEU][hapmap];0.83[CHB][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875497	chr2:185134237-185474770	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv875512	chr2:185300641-185474770	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532412	chr2:185347334-186108701	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1818452	chr2:185428946-185503154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:185466000-185479800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:185466200-185467000	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr2:185466800-185467200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:185466800-185467600	Weak transcription	Fetal Brain Female	brain
5	chr2:185466800-185471000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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