Variant report

Variant	rs73339076
Chromosome Location	chr5:126981676-126981677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73339067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339072	0.86[AFR][1000 genomes]
rs73339077	1.00[AFR][1000 genomes];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	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	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	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
4	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv599663	chr5:126972005-126991456	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv599664	chr5:126974071-127016256	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126979600-126982000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:126979600-126984600	Weak transcription	Fetal Brain Male	brain
3	chr5:126979600-126985400	Weak transcription	Ovary	ovary
4	chr5:126979800-126981800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:126979800-126981800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:126979800-126983400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr5:126980000-126983000	Weak transcription	HSMMtube	muscle
8	chr5:126981000-126981800	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:126981000-126982000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:126981000-126988800	Enhancers	Colon Smooth Muscle	Colon
11	chr5:126981200-126982000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:126981400-126984400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:126981600-126982200	Enhancers	Psoas Muscle	Psoas
14	chr5:126981600-126987000	Enhancers	Fetal Stomach	stomach
15	chr5:126981600-126987000	Enhancers	Stomach Smooth Muscle	stomach

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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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