Variant report

Variant	rs62490633
Chromosome Location	chr8:10341150-10341151
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11787374	1.00[AFR][1000 genomes]
rs12334382	0.94[EUR][1000 genomes]
rs4329237	0.94[EUR][1000 genomes]
rs56003437	1.00[AFR][1000 genomes]
rs56017720	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs56064946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56333761	0.89[EUR][1000 genomes]
rs59014160	0.87[EUR][1000 genomes]
rs6990764	0.94[EUR][1000 genomes]
rs6995383	0.87[EUR][1000 genomes]
rs7011538	0.89[EUR][1000 genomes]
rs73662837	0.94[EUR][1000 genomes]
rs73662838	0.94[EUR][1000 genomes]
rs7460759	0.95[EUR][1000 genomes]
rs7816338	0.94[EUR][1000 genomes]
rs7842777	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv890349	chr8:10294330-10355302	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1019090	chr8:10303099-10369061	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1024976	chr8:10303099-10385361	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv890350	chr8:10305317-10346588	Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62490633	RP11-981G7.6	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10329000-10345600	Weak transcription	Brain Hippocampus Middle	brain
2	chr8:10329200-10342200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:10331000-10341800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr8:10331200-10342800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:10332800-10344000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:10335400-10342200	Strong transcription	Brain Germinal Matrix	brain
7	chr8:10335400-10355200	Weak transcription	Fetal Brain Male	brain
8	chr8:10335600-10341200	Weak transcription	Adipose Nuclei	Adipose
9	chr8:10335800-10357600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:10336200-10350200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:10337200-10341800	Weak transcription	Lung	lung
12	chr8:10338000-10357600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:10339600-10342400	Strong transcription	Fetal Brain Female	brain
14	chr8:10339600-10357600	Weak transcription	Liver	Liver
15	chr8:10339800-10354400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:10340400-10341200	Strong transcription	Brain Angular Gyrus	brain
17	chr8:10340800-10346200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:10341000-10341200	Active TSS	Spleen	Spleen

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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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