Variant report

Variant	rs2246827
Chromosome Location	chr8:105440856-105440857
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10101743	0.90[YRI][hapmap]
rs12679642	0.84[AMR][1000 genomes]
rs2246821	1.00[CEU][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2253336	0.82[CHB][hapmap]
rs2669419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2669432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2853150	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes]
rs2853151	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[AMR][1000 genomes]
rs2853156	1.00[CEU][hapmap];0.89[CHB][hapmap];0.96[AMR][1000 genomes]
rs2853157	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[AMR][1000 genomes]
rs2853164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2853169	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2853170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793356	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes]
rs4236774	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4734106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105435600-105442800	Weak transcription	Brain Germinal Matrix	brain
2	chr8:105437200-105449400	Strong transcription	Liver	Liver
3	chr8:105440000-105441800	Enhancers	HUVEC	blood vessel
4	chr8:105440200-105441200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:105440200-105441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:105440200-105441400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:105440200-105441800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:105440400-105441000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:105440400-105441400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:105440600-105441000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:105440600-105441200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:105440600-105441400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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