Variant report

Variant	rs73180533
Chromosome Location	chr12:85388985-85388986
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1016521	1.00[ASN][1000 genomes]
rs11116642	1.00[ASN][1000 genomes]
rs11116650	1.00[ASN][1000 genomes]
rs11116654	1.00[ASN][1000 genomes]
rs11608668	1.00[ASN][1000 genomes]
rs12299155	1.00[ASN][1000 genomes]
rs12316387	1.00[ASN][1000 genomes]
rs1525541	1.00[ASN][1000 genomes]
rs17183612	1.00[ASN][1000 genomes]
rs2167621	1.00[ASN][1000 genomes]
rs2404236	1.00[ASN][1000 genomes]
rs58577207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59913082	1.00[ASN][1000 genomes]
rs7295913	1.00[ASN][1000 genomes]
rs7315157	1.00[ASN][1000 genomes]
rs73180540	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966336	1.00[ASN][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	nsv899377	chr12:85157346-85629241	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1040452	chr12:85179586-85747907	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	esv1792335	chr12:85321249-86003609	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv794	chr12:85355048-85389420	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	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	chr12:85383800-85391600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:85386200-85389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:85387000-85392000	Enhancers	Hela-S3	cervix
4	chr12:85387600-85389400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:85387600-85389600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:85388000-85389200	Enhancers	Primary T cells from cord blood	blood
7	chr12:85388000-85391000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:85388200-85389200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:85388200-85389200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:85388200-85389200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:85388200-85389800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:85388400-85389000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:85388400-85389800	Enhancers	HUVEC	blood vessel
14	chr12:85388400-85390200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:85388600-85389800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:85388600-85391000	Enhancers	Thymus	Thymus
17	chr12:85388800-85390200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:85388800-85390200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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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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