Variant report

Variant	rs33980421
Chromosome Location	chr8:107427722-107427723
allele	-/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11988075	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990041	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996006	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998475	1.00[AMR][1000 genomes]
rs1954751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307120	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309235	1.00[AMR][1000 genomes]
rs73309253	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533134	chr8:107307812-107670002	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv824701	chr8:107378298-107520063	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107404400-107447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:107411600-107439200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:107414600-107446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:107426800-107428000	Enhancers	Fetal Kidney	kidney
5	chr8:107427200-107428000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:107427200-107431400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:107427400-107428600	Enhancers	Colon Smooth Muscle	Colon
8	chr8:107427400-107435200	Weak transcription	Aorta	Aorta

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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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