Variant report

Variant	rs7572041
Chromosome Location	chr2:127787275-127787276
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	CEBPB	chr2:127787218-127787562	A549	lung:	n/a	n/a
2	CEBPB	chr2:127787225-127787555	HepG2	liver:	n/a	n/a
3	CEBPB	chr2:127787230-127787559	K562	blood:	n/a	n/a
4	GABPA	chr2:127787199-127787643	HL-60	blood:	n/a	n/a
5	CEBPB	chr2:127787258-127787545	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr2:127787222-127787571	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:127787268-127787574	A549	lung:	n/a	n/a
8	NR3C1	chr2:127787265-127787591	A549	lung:	n/a	n/a
9	STAT3	chr2:127787156-127787425	MCF10A-Er-Src	breast:	n/a	n/a
10	NR3C1	chr2:127787212-127787620	A549	lung:	n/a	n/a
11	GABPA	chr2:127787182-127787690	HL-60	blood:	n/a	n/a
12	STAT3	chr2:127787220-127787420	MCF10A-Er-Src	breast:	n/a	n/a
13	NR3C1	chr2:127787176-127787664	A549	lung:	n/a	n/a
14	CEBPB	chr2:127787250-127787519	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000260634	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12476995	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12611852	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1438150	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs1438151	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs2071269	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2404176	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs3768865	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4663088	0.81[EUR][1000 genomes]
rs56971880	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59338031	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6431217	0.92[CEU][hapmap]
rs66513437	0.86[EUR][1000 genomes]
rs6713701	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs6728529	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs6736518	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs744887	0.85[EUR][1000 genomes]
rs752780	0.84[CEU][hapmap]
rs753430	0.85[CEU][hapmap]
rs753431	0.81[CEU][hapmap]
rs7571480	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7606043	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs893435	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs9636241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9677441	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999422	chr2:127464647-127956543	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1004930	chr2:127477369-127938234	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv834365	chr2:127616996-127793863	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv459230	chr2:127771006-127844735	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv583032	chr2:127771006-127844735	Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7572041	BIN1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127783600-127797000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:127783800-127815600	Weak transcription	Aorta	Aorta
3	chr2:127784000-127789400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:127784400-127789600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:127787200-127787600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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