Variant report

Variant	rs390390
Chromosome Location	chr15:59045393-59045394
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
ENSG00000137845	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000245975	Chromatin interaction
ENSG00000200318	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11631244	0.88[EUR][1000 genomes]
rs11631334	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11632492	0.91[AMR][1000 genomes]
rs11639208	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16940810	0.88[EUR][1000 genomes]
rs17190720	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2555787	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2657126	1.00[AMR][1000 genomes]
rs347118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs347122	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs384322	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs387005	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415403	1.00[AMR][1000 genomes]
rs424346	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs437549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs602921	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs625510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs664783	0.94[EUR][1000 genomes]
rs73426525	0.82[AMR][1000 genomes]
rs73426541	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs793417	0.88[AFR][1000 genomes];1.00[AMR][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:18 , 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	chr15:59043000-59046000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas
4	chr15:59043200-59045600	Weak transcription	Liver	Liver
5	chr15:59043200-59045800	Weak transcription	K562	blood
6	chr15:59043200-59046200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:59043200-59046200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:59043200-59046200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr15:59043200-59046600	Weak transcription	Brain Angular Gyrus	brain
10	chr15:59043200-59047000	Weak transcription	Brain Substantia Nigra	brain
11	chr15:59043200-59047800	Weak transcription	Brain Anterior Caudate	brain
12	chr15:59043200-59048400	Weak transcription	A549	lung
13	chr15:59044000-59046400	Enhancers	Placenta	Placenta
14	chr15:59044400-59045400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:59044800-59048600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:59045000-59045400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr15:59045000-59045400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:59045000-59045400	Enhancers	Fetal Thymus	thymus

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