Variant report

Variant	rs57946659
Chromosome Location	chr5:127192976-127192977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11952176	0.85[AFR][1000 genomes]
rs73783992	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv4992	chr5:127151699-127196349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1797587	chr5:127156760-127196066	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127181000-127193400	Weak transcription	Left Ventricle	heart
2	chr5:127186000-127194000	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:127188400-127203600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:127189800-127199600	Weak transcription	Small Intestine	intestine
5	chr5:127190600-127193200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:127190800-127193400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:127191400-127194200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr5:127191600-127195800	Enhancers	Stomach Mucosa	stomach
9	chr5:127192200-127194600	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:127192600-127203200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:127192800-127193800	Weak transcription	Fetal Intestine Large	intestine
12	chr5:127192800-127193800	Weak transcription	Fetal Intestine Small	intestine

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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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