Variant report

Variant	rs2466273
Chromosome Location	chr8:12866004-12866005
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2460346	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2460347	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2460352	0.85[GIH][hapmap]
rs2460898	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2460903	1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2460905	1.00[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2460906	0.85[EUR][1000 genomes]
rs2466255	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2466256	0.89[EUR][1000 genomes]
rs6992991	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73204351	0.89[EUR][1000 genomes]
rs9325867	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349565	chr8:12478847-12927595	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv931594	chr8:12556004-13238849	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv948913	chr8:12559835-13444346	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv530902	chr8:12586413-13401795	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1030002	chr8:12736989-12903261	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv465469	chr8:12807061-12895780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610409	chr8:12807061-12895780	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2756809	chr8:12838999-12882277	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2759594	chr8:12838999-12882277	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1026381	chr8:12861137-12929367	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:12836800-12872200	Weak transcription	Left Ventricle	heart
2	chr8:12851400-12871600	Weak transcription	Fetal Brain Female	brain
3	chr8:12855000-12873400	Weak transcription	Aorta	Aorta
4	chr8:12861400-12870000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:12862600-12868000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:12862600-12872800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:12863200-12867600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:12863800-12878600	Weak transcription	Right Ventricle	heart
9	chr8:12864800-12872200	Weak transcription	Spleen	Spleen

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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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