Variant report

Variant	rs12526748
Chromosome Location	chr6:45574416-45574417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45387446..45391966-chr6:45573986..45578620,7	MCF-7	breast:
2	chr6:45472331..45474237-chr6:45572643..45575608,3	MCF-7	breast:
3	chr6:45565614..45568174-chr6:45573417..45574937,2	K562	blood:
4	chr6:45387362..45392710-chr6:45572193..45578571,10	MCF-7	breast:
5	chr6:45573666..45576304-chr6:45593015..45594569,2	K562	blood:
6	chr6:45574169..45577727-chr6:45643786..45647502,3	MCF-7	breast:
7	chr6:45554176..45557433-chr6:45573679..45578604,5	MCF-7	breast:
8	chr20:52209163..52211952-chr6:45573690..45575433,2	MCF-7	breast:
9	chr6:45344957..45347513-chr6:45573194..45576058,2	MCF-7	breast:
10	chr6:45567479..45570777-chr6:45572684..45574650,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction
ENSG00000196284	Chromatin interaction
ENSG00000171940	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12525863	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12526713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12663992	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1491141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16873550	0.86[CHB][hapmap]
rs16873553	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56935686	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914126	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6927048	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6938247	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs6938758	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs6941683	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6941890	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6942113	0.85[CHB][hapmap]
rs73457129	0.81[ASN][1000 genomes]
rs73738525	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7746733	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7752782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765045	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs913804	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9463109	0.82[EUR][1000 genomes]
rs9472517	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9472526	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9472529	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45559800-45574800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45563800-45586200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:45564200-45579200	Weak transcription	Fetal Kidney	kidney
4	chr6:45567800-45574800	Weak transcription	Esophagus	oesophagus
5	chr6:45571200-45575400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:45572800-45575400	Enhancers	Hela-S3	cervix
7	chr6:45573600-45577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:45574200-45575400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:45574400-45578200	Enhancers	Dnd41	blood
10	chr6:45574400-45579600	Enhancers	Stomach Mucosa	stomach

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