Variant report

Variant	rs11048304
Chromosome Location	chr12:26007674-26007675
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	chr12:26001348..26002904-chr12:26005653..26008250,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10505985	1.00[ASN][1000 genomes]
rs10505986	1.00[ASN][1000 genomes]
rs10842623	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10842624	0.94[EUR][1000 genomes]
rs10842625	0.81[AFR][1000 genomes]
rs10842627	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842630	1.00[ASN][1000 genomes]
rs10842634	1.00[ASN][1000 genomes]
rs10842635	1.00[ASN][1000 genomes]
rs10842636	1.00[ASN][1000 genomes]
rs10842637	1.00[ASN][1000 genomes]
rs11048289	1.00[ASN][1000 genomes]
rs11048300	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048302	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11048303	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11048305	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048309	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048311	1.00[ASN][1000 genomes]
rs11048312	1.00[ASN][1000 genomes]
rs11048315	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048317	1.00[ASN][1000 genomes]
rs11048319	1.00[ASN][1000 genomes]
rs11048323	1.00[ASN][1000 genomes]
rs11048325	1.00[ASN][1000 genomes]
rs11048326	1.00[ASN][1000 genomes]
rs11048328	1.00[ASN][1000 genomes]
rs11048329	1.00[ASN][1000 genomes]
rs11048330	1.00[ASN][1000 genomes]
rs11048331	1.00[ASN][1000 genomes]
rs12227123	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12230489	0.81[EUR][1000 genomes]
rs12306745	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12313050	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12368327	1.00[ASN][1000 genomes]
rs12369495	1.00[ASN][1000 genomes]
rs1462717	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1462718	0.81[AFR][1000 genomes]
rs1511008	1.00[ASN][1000 genomes]
rs16929496	0.84[AFR][1000 genomes]
rs2341292	1.00[ASN][1000 genomes]
rs56245229	1.00[ASN][1000 genomes]
rs58294161	1.00[ASN][1000 genomes]
rs66520255	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7134325	1.00[ASN][1000 genomes]
rs73086135	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086136	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086141	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088111	1.00[ASN][1000 genomes]
rs7953149	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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv522358	chr12:26006066-26013013	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26006600-26011400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:26006800-26008000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:26007400-26008600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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