Variant report

Variant	rs62518565
Chromosome Location	chr8:124649676-124649677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17255623	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4439107	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61730397	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs61910739	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518567	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62518568	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518570	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518591	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518592	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs62518594	1.00[AFR][1000 genomes];0.95[EUR][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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124642000-124651800	Weak transcription	Right Ventricle	heart
2	chr8:124643200-124651800	Weak transcription	Psoas Muscle	Psoas
3	chr8:124643800-124650800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:124645000-124651800	Weak transcription	Fetal Heart	heart
5	chr8:124646000-124651800	Weak transcription	Aorta	Aorta
6	chr8:124646000-124655800	Weak transcription	Osteobl	bone
7	chr8:124647200-124649800	Enhancers	NH-A	brain
8	chr8:124647200-124649800	Enhancers	NHDF-Ad	bronchial
9	chr8:124647400-124650200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:124648000-124651800	Weak transcription	Left Ventricle	heart
11	chr8:124648000-124652600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:124648200-124652200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:124648800-124656000	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:124649400-124651800	Weak transcription	Stomach Smooth Muscle	stomach

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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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