Variant report

Variant	rs11054593
Chromosome Location	chr12:7731672-7731673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:7340882..7343587-chr12:7731420..7733234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139197	Chromatin interaction
ENSG00000255572	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10505732	0.86[ASN][1000 genomes]
rs10845432	0.88[ASN][1000 genomes]
rs11054516	0.82[ASN][1000 genomes]
rs11054521	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11054527	0.81[ASN][1000 genomes]
rs11054533	0.80[ASN][1000 genomes]
rs11054541	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11054543	0.86[ASN][1000 genomes]
rs11054544	0.86[ASN][1000 genomes]
rs11054545	0.86[ASN][1000 genomes]
rs11054546	0.86[ASN][1000 genomes]
rs11054547	0.82[ASN][1000 genomes]
rs11054548	0.82[ASN][1000 genomes]
rs11054552	0.87[ASN][1000 genomes]
rs11054553	0.87[ASN][1000 genomes]
rs11054554	0.86[ASN][1000 genomes]
rs11054555	0.88[ASN][1000 genomes]
rs11054556	0.87[ASN][1000 genomes]
rs11054590	0.88[ASN][1000 genomes]
rs11054592	0.88[ASN][1000 genomes]
rs11054595	0.88[ASN][1000 genomes]
rs11054598	0.88[ASN][1000 genomes]
rs11054599	0.82[ASN][1000 genomes]
rs11054600	0.84[ASN][1000 genomes]
rs11054601	0.88[ASN][1000 genomes]
rs11054607	0.88[ASN][1000 genomes]
rs11054608	0.88[ASN][1000 genomes]
rs11054611	0.88[ASN][1000 genomes]
rs11054612	0.88[ASN][1000 genomes]
rs11054622	0.81[ASN][1000 genomes]
rs11054625	0.99[ASN][1000 genomes]
rs11561260	0.87[ASN][1000 genomes]
rs12146828	0.88[ASN][1000 genomes]
rs12231148	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12816383	0.81[ASN][1000 genomes]
rs1419979	0.81[ASN][1000 genomes]
rs1558531	0.88[ASN][1000 genomes]
rs1558532	0.88[ASN][1000 genomes]
rs1558533	0.88[ASN][1000 genomes]
rs2080125	0.81[ASN][1000 genomes]
rs2377089	0.88[ASN][1000 genomes]
rs6488490	0.88[ASN][1000 genomes]
rs6488498	0.87[ASN][1000 genomes]
rs6488499	0.87[ASN][1000 genomes]
rs7134366	0.88[ASN][1000 genomes]
rs7136877	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7137688	0.86[ASN][1000 genomes]
rs7301321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303716	0.88[ASN][1000 genomes]
rs7314851	0.87[ASN][1000 genomes]
rs73256880	0.88[ASN][1000 genomes]
rs73256883	0.88[ASN][1000 genomes]
rs7955346	0.88[ASN][1000 genomes]
rs7959013	0.86[ASN][1000 genomes]
rs7959765	0.88[ASN][1000 genomes]
rs7970227	0.88[ASN][1000 genomes]
rs7972470	0.88[ASN][1000 genomes]
rs7974405	0.88[ASN][1000 genomes]
rs7976359	0.88[ASN][1000 genomes]
rs7980155	0.88[ASN][1000 genomes]
rs9634075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9634124	0.87[ASN][1000 genomes]
rs9634125	0.87[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	nsv1041155	chr12:7655137-7821891	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045650	chr12:7655137-7824995	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv557270	chr12:7727544-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv526689	chr12:7729433-7735131	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv468990	chr12:7729433-7801532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv557271	chr12:7729433-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv826213	chr12:7730932-7830644	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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