Variant report

Variant	rs12548829
Chromosome Location	chr8:20989102-20989103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10089024	0.87[EUR][1000 genomes]
rs10102817	1.00[ASN][1000 genomes]
rs11991268	1.00[ASN][1000 genomes]
rs4739208	0.87[EUR][1000 genomes]
rs58552252	0.87[EUR][1000 genomes]
rs73617181	1.00[ASN][1000 genomes]
rs73623331	1.00[ASN][1000 genomes]
rs7462564	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032450	chr8:20514995-21033577	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv539524	chr8:20514995-21033577	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1034265	chr8:20742935-21152545	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv539528	chr8:20742935-21152545	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831260	chr8:20907266-21097125	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv469878	chr8:20955260-21128307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv482339	chr8:20955260-21128307	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20982000-20989600	Enhancers	Fetal Heart	heart
2	chr8:20986400-20989600	Enhancers	Fetal Muscle Leg	muscle
3	chr8:20986800-20989200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:20986800-20989200	Enhancers	Colon Smooth Muscle	Colon
5	chr8:20987000-20989600	Enhancers	Lung	lung
6	chr8:20987800-20989400	Enhancers	Rectal Smooth Muscle	rectum
7	chr8:20988000-20989200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:20988000-20989200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:20988200-20989400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:20988200-20996800	Weak transcription	Right Atrium	heart
11	chr8:20988800-20989200	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr8:20988800-20994400	Weak transcription	Psoas Muscle	Psoas
13	chr8:20989000-20996600	Weak transcription	Placenta	Placenta

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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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