Variant report

Variant	rs12911035
Chromosome Location	chr15:76606591-76606592
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr15:76604824-76606601	A549	lung:	n/a	n/a
2	MAX	chr15:76604694-76606678	A549	lung:	n/a	n/a
3	SRF	chr15:76605914-76606651	MCF-7	breast:	n/a	n/a
4	SRF	chr15:76606053-76606612	MCF-7	breast:	n/a	n/a
5	NR2F2	chr15:76605950-76606674	MCF-7	breast:	n/a	n/a
6	TCF12	chr15:76604657-76606769	A549	lung:	n/a	n/a
7	GATA3	chr15:76606074-76606682	MCF-7	breast:	n/a	n/a

No data

(count:11 , 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	chr15:76582923..76594852-chr15:76601949..76606997,18	MCF-7	breast:
5	chr15:76602419..76607116-chr15:76626572..76631104,6	MCF-7	breast:
6	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
7	chr15:76573073..76575469-chr15:76605288..76607304,2	MCF-7	breast:
8	chr15:76600511..76607655-chr15:76613791..76629933,32	MCF-7	breast:
9	chr15:76584135..76596152-chr15:76600630..76606670,15	MCF-7	breast:
10	chr15:76605423..76608075-chr15:76608528..76612438,4	MCF-7	breast:
11	chr15:76601310..76610583-chr15:76618699..76634643,40	K562	blood:

No data

Variant related genes	Relation type
ETFA	TF binding region
ENSG00000140374	Chromatin interaction
ENSG00000159556	Chromatin interaction
ENSG00000259514	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11072580	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11633405	0.80[ASN][1000 genomes]
rs11634060	0.80[ASN][1000 genomes]
rs11636278	0.80[ASN][1000 genomes]
rs12438741	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12439484	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12442266	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12592501	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12595211	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12898415	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12907668	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12908334	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12909718	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12913096	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12916022	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1474117	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17361504	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2139190	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2176623	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456045	0.81[EUR][1000 genomes]
rs2469210	0.81[ASN][1000 genomes]
rs2469542	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2469565	0.85[EUR][1000 genomes]
rs2469566	0.82[EUR][1000 genomes]
rs2959850	0.84[EUR][1000 genomes]
rs2959853	0.85[EUR][1000 genomes]
rs34213321	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34893715	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35707798	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3759853	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3915459	0.80[ASN][1000 genomes]
rs3915460	0.80[ASN][1000 genomes]
rs3927264	0.80[ASN][1000 genomes]
rs3958426	0.80[ASN][1000 genomes]
rs3991792	0.80[ASN][1000 genomes]
rs3991793	0.80[ASN][1000 genomes]
rs3991794	0.80[ASN][1000 genomes]
rs4381566	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886487	0.80[ASN][1000 genomes]
rs4886488	0.80[ASN][1000 genomes]
rs4886791	0.80[ASN][1000 genomes]
rs61018254	0.80[ASN][1000 genomes]
rs62027018	0.80[ASN][1000 genomes]
rs62027048	0.80[ASN][1000 genomes]
rs7174889	0.81[EUR][1000 genomes]
rs8028504	0.80[ASN][1000 genomes]
rs8029637	0.80[ASN][1000 genomes]
rs8030454	0.80[ASN][1000 genomes]
rs869452	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs959991	0.89[AMR][1000 genomes];0.89[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12911035	SCAPER	cis	lung	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76604200-76606600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:76604200-76606600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:76604200-76608000	Enhancers	Placenta	Placenta
4	chr15:76604200-76608800	Weak transcription	Right Atrium	heart
5	chr15:76604200-76609000	Weak transcription	Primary T cells from cord blood	blood
6	chr15:76604200-76613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:76604400-76606600	Flanking Active TSS	Hela-S3	cervix
8	chr15:76604400-76613600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:76605600-76606600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:76605600-76606600	Enhancers	NHEK	skin
11	chr15:76606400-76606600	Enhancers	K562	blood
12	chr15:76606400-76607400	Enhancers	A549	lung
13	chr15:76606400-76607400	Weak transcription	HepG2	liver
14	chr15:76606400-76609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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