Variant report

Variant	rs1527088
Chromosome Location	chr12:41756011-41756012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10735992	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10785246	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10785251	1.00[EUR][1000 genomes]
rs10785253	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10785257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880060	1.00[CEU][hapmap];0.95[GIH][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1358272	1.00[EUR][1000 genomes]
rs1880886	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs1997192	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2049592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2141108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2177976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405912	0.81[CEU][hapmap];0.90[GIH][hapmap]
rs4447233	1.00[EUR][1000 genomes]
rs4768344	0.91[CEU][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs4768351	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7133896	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs7134525	0.91[CEU][hapmap];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832383	chr12:41693298-41846934	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41755000-41759600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:41755200-41756800	Enhancers	Colon Smooth Muscle	Colon
3	chr12:41755400-41756600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:41755400-41756800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:41755400-41757000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:41755400-41757400	Enhancers	Fetal Kidney	kidney
7	chr12:41755400-41760200	Enhancers	Brain Germinal Matrix	brain
8	chr12:41755600-41756600	Enhancers	Brain Cingulate Gyrus	brain
9	chr12:41756000-41756200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:41756000-41756200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:41756000-41756600	Enhancers	Brain Substantia Nigra	brain
12	chr12:41756000-41756800	Enhancers	Brain Angular Gyrus	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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