Variant report

Variant	rs73495112
Chromosome Location	chr13:49224944-49224945
allele	A/G
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:4)

rs_ID	r²[population]
rs58318754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59355608	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73495109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 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	chr13:49221400-49226200	Weak transcription	Dnd41	blood
2	chr13:49222000-49225200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:49222600-49229400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:49222800-49227000	Weak transcription	Fetal Thymus	thymus
5	chr13:49223000-49226600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:49223000-49226600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:49223000-49227200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr13:49223000-49227200	Weak transcription	Fetal Stomach	stomach
9	chr13:49223000-49227400	Weak transcription	Adipose Nuclei	Adipose
10	chr13:49223200-49226400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:49223400-49226400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:49224800-49226400	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr13:49224800-49226600	Weak transcription	Monocytes-CD14+_RO01746	blood

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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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