Variant report

Variant	rs62018046
Chromosome Location	chr15:40806506-40806507
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40805607..40807351-chr15:40807783..40810387,2	K562	blood:
2	chr15:40800544..40802364-chr15:40805331..40807319,2	MCF-7	breast:
3	chr15:40730812..40733256-chr15:40803333..40806622,3	K562	blood:
4	chr15:40730812..40737363-chr15:40801226..40806622,9	K562	blood:

Variant related genes	Relation type
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10851396	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11070279	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11070280	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11852527	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11857247	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12899408	0.84[AMR][1000 genomes]
rs12907448	0.80[AMR][1000 genomes]
rs12907984	0.80[AMR][1000 genomes]
rs12908114	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12908867	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12914501	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12915563	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12916323	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1453183	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17746659	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17747399	0.80[AMR][1000 genomes]
rs1901774	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2123534	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2412524	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3213999	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34303240	0.84[AMR][1000 genomes]
rs34750756	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35030447	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35884042	0.80[AMR][1000 genomes]
rs36122190	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3743146	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3803353	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55954396	0.84[AMR][1000 genomes]
rs56384845	0.84[AMR][1000 genomes]
rs61048252	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62018030	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62018048	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62018051	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62019866	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62019883	0.84[AMR][1000 genomes]
rs7162749	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7164385	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7165054	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7181909	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72733469	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs731640	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs733299	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8025458	0.82[EUR][1000 genomes]
rs8028910	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8036938	0.81[EUR][1000 genomes]
rs8042733	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs999197	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs62018046	KNSTRN	cis	Heart Left Ventricle	GTEx
rs62018046	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs62018046	DISP2	cis	Thyroid	GTEx
rs62018046	RP11-111A22.1	cis	lung	GTEx
rs62018046	C15orf57	cis	lung	GTEx
rs62018046	RP11-111A22.1	cis	Artery Tibial	GTEx
rs62018046	C15orf57	cis	Nerve Tibial	GTEx
rs62018046	C15orf57	cis	Esophagus Muscularis	GTEx
rs62018046	RP11-111A22.1	cis	Esophagus Muscularis	GTEx
rs62018046	C15orf57	cis	Adipose Subcutaneous	GTEx
rs62018046	C15orf57	cis	Artery Tibial	GTEx
rs62018046	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs62018046	CCDC32	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40804200-40807600	Weak transcription	NHDF-Ad	bronchial
2	chr15:40804400-40812200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:40804400-40812200	Weak transcription	Pancreas	Pancrea
4	chr15:40804400-40821000	Weak transcription	Right Atrium	heart
5	chr15:40805000-40812200	Weak transcription	HMEC	breast
6	chr15:40805200-40812200	Weak transcription	Fetal Stomach	stomach
7	chr15:40805200-40828200	Weak transcription	Placenta	Placenta
8	chr15:40805200-40833000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:40805800-40806600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:40806200-40812200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links