Variant report

Variant	rs17090678
Chromosome Location	chr1:71380750-71380751
allele	C/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:15)

rs_ID	r²[population]
rs11811234	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs11811492	1.00[AMR][1000 genomes]
rs17131468	1.00[MEX][hapmap]
rs56955343	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58483736	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59778688	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61472990	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089133	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089136	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089141	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089143	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089145	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461840	chr1:71364105-71468493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546471	chr1:71364105-71468493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1002663	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv534987	chr1:71372715-71465508	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71377400-71381200	Weak transcription	K562	blood
2	chr1:71380400-71380800	Enhancers	Fetal Heart	heart
3	chr1:71380400-71382200	Enhancers	Adipose Nuclei	Adipose
4	chr1:71380400-71383400	Enhancers	Dnd41	blood
5	chr1:71380600-71380800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71380600-71381200	Enhancers	Brain Germinal Matrix	brain
7	chr1:71380600-71381600	Enhancers	Rectal Smooth Muscle	rectum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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