Variant report

Variant	rs473594
Chromosome Location	chr6:80132942-80132943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs196686	0.93[EUR][1000 genomes]
rs196688	0.86[ASN][1000 genomes]
rs196691	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs196693	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3846736	0.81[EUR][1000 genomes]
rs3846738	0.90[EUR][1000 genomes]
rs6454121	0.84[EUR][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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr6:80129800-80133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:80131200-80133400	Active TSS	Brain Cingulate Gyrus	brain
3	chr6:80131200-80133800	Active TSS	Brain Anterior Caudate	brain
4	chr6:80131200-80134400	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:80131200-80134600	Active TSS	Brain Angular Gyrus	brain
6	chr6:80131400-80133200	Active TSS	Brain Substantia Nigra	brain
7	chr6:80131600-80133200	Active TSS	Brain Hippocampus Middle	brain
8	chr6:80131600-80133200	Enhancers	NHLF	lung
9	chr6:80132000-80133000	Enhancers	HSMMtube	muscle
10	chr6:80132200-80133200	Enhancers	Fetal Brain Male	brain
11	chr6:80132200-80135400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:80132200-80135400	Weak transcription	Fetal Heart	heart
13	chr6:80132400-80133400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:80132600-80133200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr6:80132600-80133400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:80132600-80133400	Enhancers	Fetal Brain Female	brain
17	chr6:80132600-80134000	Active TSS	Brain Dorsolateral Prefrontal Cortex	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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