Variant report

Variant	rs62018030
Chromosome Location	chr15:40769320-40769321
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40729987..40732778-chr15:40768469..40770849,2	K562	blood:
2	chr15:40768530..40771380-chr15:40802476..40804326,2	K562	blood:
3	chr15:40768824..40772599-chr15:40776981..40779621,3	K562	blood:
4	chr15:40743916..40746207-chr15:40767844..40769362,2	K562	blood:
5	chr15:40768341..40769878-chr15:40802336..40804015,2	MCF-7	breast:
6	chr15:40768444..40771157-chr15:40781331..40783090,2	K562	blood:
7	chr15:40761851..40766417-chr15:40767472..40770724,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169105	Chromatin interaction
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10851396	0.80[EUR][1000 genomes]
rs11852527	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11857247	0.90[EUR][1000 genomes]
rs12898690	0.80[AMR][1000 genomes]
rs12915563	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12916323	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1453183	0.80[EUR][1000 genomes]
rs1901774	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2123534	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2412524	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3213999	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34750756	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35030447	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36122190	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3743146	0.80[EUR][1000 genomes]
rs3803353	0.81[EUR][1000 genomes]
rs61048252	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62018046	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62018048	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62018051	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7162749	0.80[EUR][1000 genomes]
rs7164385	0.89[EUR][1000 genomes]
rs7165054	0.81[EUR][1000 genomes]
rs7181909	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72733469	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs731640	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs733299	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8025458	0.80[EUR][1000 genomes]
rs8028910	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9672313	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs999197	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs62018030	RP11-111A22.1	cis	Artery Tibial	GTEx
rs62018030	RP11-111A22.1	cis	Adipose Subcutaneous	GTEx
rs62018030	CCDC32	cis	multi-tissue	Pritchard
rs62018030	C15orf57	cis	Artery Tibial	GTEx
rs62018030	KNSTRN	cis	Heart Left Ventricle	GTEx
rs62018030	ZFYVE19	Cis_1M	lymphoblastoid	RTeQTL
rs62018030	C15orf57	cis	Nerve Tibial	GTEx
rs62018030	C15orf57	cis	lung	GTEx
rs62018030	CCDC32	Cis_1M	lymphoblastoid	RTeQTL
rs62018030	C15orf57	cis	Esophagus Muscularis	GTEx
rs62018030	C15orf57	cis	Adipose Subcutaneous	GTEx
rs62018030	RP11-111A22.1	cis	lung	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40763000-40770200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:40764600-40769800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:40764600-40770000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:40764600-40770000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:40764600-40771400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:40764800-40770000	Weak transcription	NHEK	skin
7	chr15:40765000-40769800	Weak transcription	Hela-S3	cervix
8	chr15:40765000-40772400	Weak transcription	Esophagus	oesophagus
9	chr15:40765000-40773400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr15:40765200-40770200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:40765200-40770800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:40766600-40770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:40766800-40769800	Weak transcription	K562	blood
14	chr15:40767400-40769800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:40767600-40771400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:40768400-40769800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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