Variant report

Variant	rs3100130
Chromosome Location	chr15:45071166-45071167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45003603..45005624-chr15:45070038..45072535,3	K562	blood:
2	chr15:45068193..45071978-chr15:45073632..45077696,5	K562	blood:
3	chr15:45061840..45063494-chr15:45070195..45071973,2	K562	blood:
4	chr15:45065695..45068239-chr15:45071040..45073008,2	K562	blood:
5	chr15:45003603..45005937-chr15:45070038..45072951,3	K562	blood:
6	chr15:45020758..45022821-chr15:45070879..45074256,3	K562	blood:

Variant related genes	Relation type
ENSG00000166710	Chromatin interaction
ENSG00000185880	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1288094	1.00[AMR][1000 genomes]
rs1630168	0.90[AFR][1000 genomes]
rs1669833	0.90[AFR][1000 genomes]
rs1669854	1.00[AMR][1000 genomes]
rs1720723	0.90[AFR][1000 genomes]
rs1720724	0.90[AFR][1000 genomes]
rs1901536	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1901539	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2167594	1.00[AMR][1000 genomes]
rs2254602	1.00[AMR][1000 genomes]
rs2444007	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2444011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2462044	1.00[AMR][1000 genomes]
rs2468072	1.00[AMR][1000 genomes]
rs2470916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2960207	1.00[AMR][1000 genomes]
rs3100129	1.00[AMR][1000 genomes]
rs3100144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3100145	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3110178	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3110179	0.87[AFR][1000 genomes]
rs3110180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3110673	1.00[AMR][1000 genomes]
rs3110674	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34359070	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34387827	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34708122	1.00[AMR][1000 genomes]
rs4625702	1.00[AMR][1000 genomes]
rs4923992	1.00[AMR][1000 genomes]
rs4923994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv819242	chr15:45059351-45078608	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45047600-45076000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:45057200-45076000	Weak transcription	Brain Anterior Caudate	brain
3	chr15:45068400-45072600	Weak transcription	Brain Substantia Nigra	brain
4	chr15:45068400-45073000	Weak transcription	Brain Angular Gyrus	brain
5	chr15:45068600-45072600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:45068600-45072800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:45068600-45073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:45070800-45071600	Enhancers	HUES48 Cell Line	embryonic stem cell

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