Variant report

Variant	rs12437952
Chromosome Location	chr15:59049346-59049347
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RPC155	chr15:59048841-59049528	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59049338..59052129-chr15:59052697..59054874,3	K562	blood:
2	chr15:59042171..59043978-chr15:59046627..59049380,3	K562	blood:
3	chr15:59048564..59050956-chr15:59058721..59061333,2	K562	blood:
4	chr15:59040771..59044388-chr15:59046627..59050183,4	K562	blood:

Variant related genes	Relation type
ENSG00000259173	TF binding region
ENSG00000200318	Chromatin interaction
ENSG00000137845	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11071397	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12439231	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12439632	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12440267	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12441313	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12441912	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12591310	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12595057	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12900343	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12905110	0.83[ASN][1000 genomes]
rs12908261	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12912327	0.83[AMR][1000 genomes]
rs12913383	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12917083	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1426652	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1551445	0.83[EUR][1000 genomes]
rs17236194	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17301954	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1820480	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2013098	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2052805	0.81[AMR][1000 genomes]
rs2414608	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28394222	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28412567	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28455654	0.81[AMR][1000 genomes]
rs28470809	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28470867	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28489732	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28510910	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28536555	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28733370	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28793354	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28818840	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28876251	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28889637	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35956992	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6494034	0.84[ASN][1000 genomes]
rs7163939	0.82[ASN][1000 genomes]
rs7165019	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7168825	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7169205	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7169796	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8025383	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8029805	0.83[ASN][1000 genomes]
rs8033691	0.83[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	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:8 , 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	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas
3	chr15:59046400-59050400	Weak transcription	Liver	Liver
4	chr15:59046800-59049800	Enhancers	Placenta	Placenta
5	chr15:59047600-59052200	Weak transcription	Fetal Thymus	thymus
6	chr15:59048600-59050200	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:59049000-59049600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:59049200-59049400	Enhancers	A549	lung

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