Variant report

Variant	rs73180540
Chromosome Location	chr12:85399409-85399410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
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	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[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]
rs73180533	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:3 , 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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:85391000-85401200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:85394600-85400800	Weak transcription	Hela-S3	cervix
3	chr12:85398400-85399800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:85398400-85400400	Enhancers	Fetal Thymus	thymus
5	chr12:85398600-85399600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:85398600-85399600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:85398800-85400000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr12:85399000-85400000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:85399000-85400000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:85399000-85400200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:85399200-85399600	Flanking Active TSS	Thymus	Thymus
12	chr12:85399200-85400200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr12:85399400-85400000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:85399400-85400200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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