Variant report

Variant	rs7000559
Chromosome Location	chr8:54223546-54223547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10110650	0.97[EUR][1000 genomes]
rs10504151	0.82[CEU][hapmap]
rs12056411	0.82[CEU][hapmap]
rs12056414	0.82[CEU][hapmap]
rs16918875	1.00[CEU][hapmap]
rs16918900	1.00[CEU][hapmap]
rs16918928	0.82[CEU][hapmap]
rs16918931	0.82[CEU][hapmap]
rs16918934	0.82[CEU][hapmap]
rs16918938	0.82[CEU][hapmap]
rs16918955	1.00[CEU][hapmap]
rs2303432	0.82[CEU][hapmap]
rs2303433	0.82[CEU][hapmap]
rs57118903	0.95[EUR][1000 genomes]
rs6473814	0.97[EUR][1000 genomes]
rs6982096	0.82[CEU][hapmap]
rs6986052	0.82[CEU][hapmap]
rs6988508	1.00[CEU][hapmap]
rs7016275	1.00[CEU][hapmap]
rs73586457	0.95[EUR][1000 genomes]
rs73586471	0.97[EUR][1000 genomes]
rs73586486	0.97[EUR][1000 genomes]
rs73586489	0.97[EUR][1000 genomes]
rs73588541	0.97[EUR][1000 genomes]
rs73588573	0.97[EUR][1000 genomes]
rs7462780	0.97[EUR][1000 genomes]
rs7813478	0.82[CEU][hapmap]
rs7816233	1.00[CEU][hapmap]
rs7818113	0.97[EUR][1000 genomes]
rs7822011	1.00[CEU][hapmap]
rs7829470	1.00[CEU][hapmap]
rs7832039	1.00[CEU][hapmap]
rs7839445	1.00[CEU][hapmap]
rs7840304	0.82[CEU][hapmap]
rs7843965	0.82[CEU][hapmap]
rs7844117	0.82[CEU][hapmap]

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	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2752674	chr8:54181147-54483747	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54222600-54224200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:54222800-54223600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:54222800-54223800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:54222800-54224000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:54222800-54224200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:54222800-54224200	Enhancers	NHEK	skin
7	chr8:54223000-54226000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:54223000-54226400	Enhancers	Brain Germinal Matrix	brain
9	chr8:54223200-54223600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:54223400-54224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:54223400-54229400	Weak transcription	HMEC	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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