Variant report

Variant	rs73575352
Chromosome Location	chr8:51100835-51100836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10096911	1.00[AMR][1000 genomes]
rs10097416	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10100515	0.83[AMR][1000 genomes]
rs10107442	0.83[AMR][1000 genomes]
rs10109132	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16914125	0.83[AMR][1000 genomes]
rs16914130	0.83[AMR][1000 genomes]
rs16914302	0.83[AMR][1000 genomes]
rs16914414	0.83[AMR][1000 genomes]
rs28418948	0.83[AMR][1000 genomes]
rs28468445	0.83[AMR][1000 genomes]
rs28524672	1.00[AMR][1000 genomes]
rs28552506	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28566866	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28676677	1.00[AMR][1000 genomes]
rs56234780	0.83[AMR][1000 genomes]
rs60600453	1.00[AMR][1000 genomes]
rs61279830	0.83[AMR][1000 genomes]
rs73569361	0.83[AMR][1000 genomes]
rs73569366	0.83[AMR][1000 genomes]
rs73569370	1.00[AMR][1000 genomes]
rs73569372	0.83[AMR][1000 genomes]
rs73569374	0.83[AMR][1000 genomes]
rs73569385	0.83[AMR][1000 genomes]
rs73573511	1.00[AMR][1000 genomes]
rs73575345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73676211	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73677829	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1829361	chr8:51021638-51101126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr8:51096200-51101000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:51096200-51101200	Weak transcription	NHDF-Ad	bronchial
3	chr8:51096800-51101000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:51098000-51101000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:51100200-51102200	Enhancers	HMEC	breast
6	chr8:51100400-51101000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:51100400-51101000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:51100400-51102400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:51100600-51102200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:51100800-51102000	Enhancers	NH-A	brain
11	chr8:51100800-51102200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:51100800-51102200	Enhancers	Osteobl	bone

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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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