Variant report

Variant	rs73209350
Chromosome Location	chr5:108278570-108278571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs57583757	1.00[AMR][1000 genomes]
rs73207509	1.00[AMR][1000 genomes]
rs73207512	1.00[AMR][1000 genomes]
rs73207519	1.00[AMR][1000 genomes]
rs73207522	1.00[AMR][1000 genomes]
rs73207532	1.00[AMR][1000 genomes]
rs73207541	1.00[AMR][1000 genomes]
rs73207542	1.00[AMR][1000 genomes]
rs73207544	1.00[AMR][1000 genomes]
rs73207557	1.00[AMR][1000 genomes]
rs73207559	1.00[AMR][1000 genomes]
rs73207560	1.00[AMR][1000 genomes]
rs73209319	1.00[AMR][1000 genomes]
rs73209335	1.00[AMR][1000 genomes]
rs73209339	1.00[AMR][1000 genomes]
rs73209355	1.00[AMR][1000 genomes]
rs73209360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73209361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73209365	1.00[AMR][1000 genomes]
rs73211542	1.00[AMR][1000 genomes]
rs73222033	1.00[AMR][1000 genomes]
rs73222038	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
3	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:108230200-108302400	Weak transcription	HSMM	muscle
5	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:108254000-108311200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:108268200-108280800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:108268400-108301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:108270600-108289200	Weak transcription	K562	blood
10	chr5:108271200-108278800	Weak transcription	Ovary	ovary
11	chr5:108273400-108278600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:108277600-108279400	Enhancers	Brain Germinal Matrix	brain
13	chr5:108277600-108279400	Enhancers	Fetal Lung	lung
14	chr5:108277600-108279800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:108277600-108283800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:108277600-108322400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:108278000-108308200	Weak transcription	Fetal Kidney	kidney
18	chr5:108278200-108278800	Enhancers	Brain Hippocampus Middle	brain

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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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