Variant report

Variant	rs57940153
Chromosome Location	chr8:103007765-103007766
allele	A/C/T
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:7)

rs_ID	r²[population]
rs73275007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73275545	1.00[AMR][1000 genomes]
rs73275549	1.00[AMR][1000 genomes]
rs73275555	1.00[AMR][1000 genomes]
rs73280901	1.00[AMR][1000 genomes]
rs73293354	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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102990400-103008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:102993200-103008400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:102994200-103007800	Weak transcription	Right Ventricle	heart
4	chr8:103000000-103007800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:103000800-103010000	Weak transcription	Fetal Brain Male	brain
6	chr8:103002200-103009800	Weak transcription	K562	blood
7	chr8:103004000-103008000	Weak transcription	Fetal Heart	heart
8	chr8:103005000-103007800	Weak transcription	Ovary	ovary
9	chr8:103005000-103009800	Weak transcription	Brain Germinal Matrix	brain
10	chr8:103005200-103009000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:103005400-103007800	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:103006000-103008200	Weak transcription	Left Ventricle	heart
13	chr8:103006000-103008200	Weak transcription	Psoas Muscle	Psoas
14	chr8:103006000-103009000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:103007000-103007800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:103007600-103008400	Enhancers	Lung	lung
17	chr8:103007600-103009200	Enhancers	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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