Variant report

Variant	rs12581142
Chromosome Location	chr12:67278142-67278143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10467150	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10748061	1.00[ASN][1000 genomes]
rs10784594	1.00[ASN][1000 genomes]
rs10878516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878517	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878518	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176471	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11176472	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11176477	1.00[ASN][1000 genomes]
rs11176478	1.00[ASN][1000 genomes]
rs11176481	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1252275	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2047892	1.00[ASN][1000 genomes]
rs2062861	1.00[ASN][1000 genomes]
rs2870921	1.00[ASN][1000 genomes]
rs3932223	1.00[ASN][1000 genomes]
rs924822	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs983665	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 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	chr12:67258000-67292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:67272400-67289800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:67274000-67278800	Weak transcription	Right Atrium	heart
4	chr12:67274000-67279000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:67276800-67279600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:67277200-67278600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:67277400-67278200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:67277400-67278400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:67277400-67278600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr12:67277400-67279400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr12:67277400-67279600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:67277600-67278200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:67277800-67278200	Enhancers	Fetal Brain Female	brain
14	chr12:67277800-67279800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:67278000-67279200	Weak transcription	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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