Variant report

Variant	rs73454519
Chromosome Location	chr13:38190148-38190149
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:9)

rs_ID	r²[population]
rs58075371	1.00[EUR][1000 genomes]
rs6563568	1.00[EUR][1000 genomes]
rs7335337	1.00[EUR][1000 genomes]
rs73454515	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73454521	0.93[AFR][1000 genomes]
rs73456417	1.00[EUR][1000 genomes]
rs73456419	1.00[EUR][1000 genomes]
rs73464453	1.00[EUR][1000 genomes]
rs9547990	1.00[EUR][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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv430553	chr13:38184100-38203200	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38177000-38190400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:38189200-38191000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr13:38189200-38192400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:38189400-38190400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:38189400-38191600	Enhancers	HSMM	muscle
6	chr13:38189400-38191600	Enhancers	Osteobl	bone
7	chr13:38189400-38192800	Enhancers	NH-A	brain
8	chr13:38189600-38190600	Enhancers	Fetal Heart	heart
9	chr13:38189600-38191000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:38189600-38193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:38189800-38190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:38189800-38190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:38189800-38190800	Weak transcription	HSMMtube	muscle
14	chr13:38189800-38190800	Weak transcription	NHEK	skin
15	chr13:38189800-38190800	Weak transcription	NHLF	lung
16	chr13:38189800-38191000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:38189800-38191400	Weak transcription	HMEC	breast
18	chr13:38189800-38193200	Enhancers	NHDF-Ad	bronchial

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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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