Variant report

Variant	rs12917083
Chromosome Location	chr15:59044540-59044541
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:59040055..59042151-chr15:59043208..59045709,2	MCF-7	breast:
2	chr15:59040077..59045685-chr15:59061303..59067063,14	K562	blood:
3	chr15:59038409..59043803-chr15:59043836..59048384,6	MCF-7	breast:
4	chr15:59042046..59047020-chr15:59050998..59056418,7	K562	blood:

Variant related genes	Relation type
ENSG00000245975	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000200318	Chromatin interaction
ENSG00000137845	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11071397	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12437952	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12439231	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12439632	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12440267	0.81[AMR][1000 genomes]
rs12441313	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12441912	0.83[AMR][1000 genomes]
rs12591310	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12595057	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12900343	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12908261	0.83[AMR][1000 genomes]
rs12910927	0.81[AMR][1000 genomes]
rs12912327	0.81[AMR][1000 genomes]
rs12913383	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1426652	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1551445	0.83[EUR][1000 genomes]
rs1820480	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2013098	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2414608	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28394222	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28412567	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28470809	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28470867	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28489732	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs28510910	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28536555	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28733370	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28793354	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28818840	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs28876251	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28889637	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35956992	0.84[AMR][1000 genomes]
rs7165019	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7168825	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7169205	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7169796	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8025383	0.86[EUR][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	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 target site	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59042600-59062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:59043000-59044800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:59043000-59044800	Weak transcription	Thymus	Thymus
4	chr15:59043000-59045000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr15:59043000-59045000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr15:59043000-59046000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas
8	chr15:59043200-59044600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:59043200-59045000	Weak transcription	Fetal Thymus	thymus
10	chr15:59043200-59045600	Weak transcription	Liver	Liver
11	chr15:59043200-59045800	Weak transcription	K562	blood
12	chr15:59043200-59046200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:59043200-59046200	Weak transcription	Brain Hippocampus Middle	brain
14	chr15:59043200-59046200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:59043200-59046600	Weak transcription	Brain Angular Gyrus	brain
16	chr15:59043200-59047000	Weak transcription	Brain Substantia Nigra	brain
17	chr15:59043200-59047800	Weak transcription	Brain Anterior Caudate	brain
18	chr15:59043200-59048400	Weak transcription	A549	lung
19	chr15:59043600-59044800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:59044000-59046400	Enhancers	Placenta	Placenta
21	chr15:59044400-59045400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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