Variant report

Variant	rs10426458
Chromosome Location	chr19:38723825-38723826
allele	A/G
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	CTCF	chr19:38723738-38725780	A549	lung:	n/a	chr19:38724609-38724627 chr19:38724612-38724625 chr19:38724614-38724624 chr19:38724612-38724625 chr19:38724610-38724626 chr19:38724611-38724632 chr19:38724612-38724621
2	CTCF	chr19:38723800-38723950	AG09319	gingival:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:38723024..38725443-chr19:38878672..38880879,2	MCF-7	breast:
2	chr19:38723009..38724604-chr19:38731340..38732877,2	K562	blood:
3	chr19:38723368..38726031-chr19:38797487..38799175,2	MCF-7	breast:
4	chr19:38723198..38725362-chr19:38864157..38865784,2	K562	blood:
5	chr19:38723491..38725548-chr19:38807172..38810073,2	MCF-7	breast:
6	chr19:38723006..38724571-chr19:38824832..38827258,2	MCF-7	breast:
7	chr19:38722679..38724899-chr19:38824726..38826425,2	MCF-7	breast:
8	chr19:38701284..38702957-chr19:38723121..38725019,2	K562	blood:
9	chr19:38716917..38718796-chr19:38722935..38725683,2	MCF-7	breast:

Variant related genes	Relation type
DPF1	TF binding region
ENSG00000188766	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10401829	1.00[AMR][1000 genomes]
rs10401835	1.00[AMR][1000 genomes]
rs10402883	1.00[AMR][1000 genomes]
rs10403809	1.00[AMR][1000 genomes]
rs10405381	1.00[AMR][1000 genomes]
rs10406765	1.00[AMR][1000 genomes]
rs10407169	1.00[AMR][1000 genomes]
rs10407230	1.00[AMR][1000 genomes]
rs10408479	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10408909	1.00[AMR][1000 genomes]
rs10412116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413138	1.00[AMR][1000 genomes]
rs10413363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413551	1.00[AMR][1000 genomes]
rs10413596	1.00[AMR][1000 genomes]
rs10414916	1.00[AMR][1000 genomes]
rs10414927	1.00[AMR][1000 genomes]
rs10415809	1.00[AMR][1000 genomes]
rs10421241	1.00[AMR][1000 genomes]
rs10423429	1.00[AMR][1000 genomes]
rs10424104	1.00[AMR][1000 genomes]
rs10424818	1.00[AMR][1000 genomes]
rs10425099	1.00[AMR][1000 genomes]
rs10425571	1.00[AMR][1000 genomes]
rs10426292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376501	1.00[AMR][1000 genomes]
rs28380555	1.00[AMR][1000 genomes]
rs28421402	1.00[AMR][1000 genomes]
rs28627637	1.00[AMR][1000 genomes]
rs28637743	1.00[AMR][1000 genomes]
rs28649033	1.00[AMR][1000 genomes]
rs28660098	1.00[AMR][1000 genomes]
rs28700884	1.00[AMR][1000 genomes]
rs56134404	1.00[AMR][1000 genomes]
rs56216562	1.00[AMR][1000 genomes]
rs58260561	1.00[AMR][1000 genomes]
rs59571293	1.00[AMR][1000 genomes]
rs61456950	1.00[AMR][1000 genomes]
rs71354969	1.00[AMR][1000 genomes]
rs73630898	1.00[AMR][1000 genomes]
rs73632925	1.00[AMR][1000 genomes]
rs73930357	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38720000-38724600	Weak transcription	Fetal Heart	heart
2	chr19:38720600-38740400	Weak transcription	Right Atrium	heart
3	chr19:38720800-38724600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:38721000-38724600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:38721000-38734400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:38723400-38724000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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