Variant report

Variant	rs2469533
Chromosome Location	chr15:76607250-76607251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76586485..76588241-chr15:76606261..76609045,2	K562	blood:
2	chr15:76605907..76608754-chr15:76611748..76613276,2	K562	blood:
3	chr15:76601284..76605220-chr15:76605803..76613495,17	K562	blood:
4	chr15:76606947..76607819-chr15:76622249..76623219,2	MCF-7	breast:
5	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
6	chr15:76573073..76575469-chr15:76605288..76607304,2	MCF-7	breast:
7	chr15:76600511..76607655-chr15:76613791..76629933,32	MCF-7	breast:
8	chr15:76605423..76608075-chr15:76608528..76612438,4	MCF-7	breast:
9	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159556	Chromatin interaction
ENSG00000140374	Chromatin interaction
ENSG00000259514	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1801591	0.85[ASN][1000 genomes]
rs1810348	0.81[EUR][1000 genomes]
rs1914816	0.82[ASN][1000 genomes]
rs2291449	0.85[ASN][1000 genomes]
rs2456027	0.82[ASN][1000 genomes]
rs2456033	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456040	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2456042	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2456047	0.85[ASN][1000 genomes]
rs2456063	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2456066	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2456067	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2456070	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2456072	0.82[ASN][1000 genomes]
rs2456074	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2456075	0.82[ASN][1000 genomes]
rs2456078	0.82[ASN][1000 genomes]
rs2460146	0.82[ASN][1000 genomes]
rs2460151	0.82[ASN][1000 genomes]
rs2460153	0.85[ASN][1000 genomes]
rs2460158	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2469211	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2469212	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469214	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469215	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469216	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469538	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469539	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2469552	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469564	0.85[ASN][1000 genomes]
rs2469573	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938691	0.82[ASN][1000 genomes]
rs2956875	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2957037	0.82[ASN][1000 genomes]
rs2959846	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4489970	0.81[EUR][1000 genomes]
rs4886490	0.81[EUR][1000 genomes]
rs6495200	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8042255	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs874223	0.81[EUR][1000 genomes]
rs874224	0.84[AMR][1000 genomes];0.81[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	nsv520069	chr15:76602212-76609181	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2469533	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs2469533	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76604200-76608000	Enhancers	Placenta	Placenta
2	chr15:76604200-76608800	Weak transcription	Right Atrium	heart
3	chr15:76604200-76609000	Weak transcription	Primary T cells from cord blood	blood
4	chr15:76604200-76613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:76604400-76613600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:76606400-76607400	Enhancers	A549	lung
7	chr15:76606400-76607400	Weak transcription	HepG2	liver
8	chr15:76606400-76609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:76606600-76607800	Enhancers	Hela-S3	cervix
10	chr15:76606600-76610400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr15:76606600-76610400	Weak transcription	NHEK	skin
12	chr15:76606600-76611600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:76606600-76612200	Weak transcription	K562	blood

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