Variant report

Variant	rs12789333
Chromosome Location	chr11:17289111-17289112
allele	A/T
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	RPC155	chr11:17288992-17289418	Hela-S3	cervix:	n/a	n/a
2	FOSL1	chr11:17288834-17289655	HCT-116	colon:	n/a	n/a
3	RAD21	chr11:17288899-17289649	HCT-116	colon:	n/a	n/a
4	USF1	chr11:17289078-17289462	A549	lung:	n/a	n/a
5	JUND	chr11:17288883-17289544	HCT-116	colon:	n/a	chr11:17289271-17289282
6	FOS	chr11:17289095-17289463	MCF10A-Er-Src	breast:	n/a	chr11:17289271-17289282
7	EP300	chr11:17289020-17289500	A549	lung:	n/a	n/a
8	ELF1	chr11:17288834-17289590	HCT-116	colon:	n/a	n/a
9	FOSL2	chr11:17289067-17289420	MCF-7	breast:	n/a	n/a
10	ELF1	chr11:17289092-17289395	K562	blood:	n/a	n/a
11	RCOR1	chr11:17289037-17289466	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr11:17289101-17289512	Hela-S3	cervix:	n/a	n/a
13	SIN3AK20	chr11:17288847-17289542	HCT-116	colon:	n/a	n/a
14	TEAD4	chr11:17289022-17289517	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:17289052-17289491	HCT-116	colon:	n/a	n/a
16	JUND	chr11:17289099-17289522	Hela-S3	cervix:	n/a	chr11:17289271-17289282
17	TEAD4	chr11:17289044-17289468	K562	blood:	n/a	n/a
18	JUND	chr11:17288838-17289501	HCT-116	colon:	n/a	chr11:17289271-17289282
19	JUN	chr11:17289099-17289456	HUVEC	blood vessel:	n/a	n/a
20	STAT3	chr11:17289048-17289501	MCF10A-Er-Src	breast:	n/a	n/a
21	TCF12	chr11:17289035-17289538	A549	lung:	n/a	n/a
22	TCF7L2	chr11:17289105-17289434	Hela-S3	cervix:	n/a	n/a
23	TEAD4	chr11:17288927-17289592	HCT-116	colon:	n/a	n/a
24	FOS	chr11:17289085-17289479	HUVEC	blood vessel:	n/a	chr11:17289271-17289282
25	TEAD4	chr11:17288920-17289588	HCT-116	colon:	n/a	n/a
26	SP1	chr11:17288855-17289659	HCT-116	colon:	n/a	n/a
27	CEBPB	chr11:17288797-17289597	HCT-116	colon:	n/a	n/a
28	MAX	chr11:17288900-17289661	HCT-116	colon:	n/a	n/a
29	MAX	chr11:17288828-17289642	HCT-116	colon:	n/a	n/a
30	FOSL2	chr11:17289004-17289590	A549	lung:	n/a	n/a
31	CBX3	chr11:17288809-17289644	HCT-116	colon:	n/a	n/a
32	MAX	chr11:17289106-17289410	NB4	blood:	n/a	n/a
33	FOSL2	chr11:17289082-17289441	A549	lung:	n/a	n/a
34	FOS	chr11:17289088-17289465	MCF10A-Er-Src	breast:	n/a	chr11:17289271-17289282
35	SP1	chr11:17288881-17289668	HCT-116	colon:	n/a	n/a
36	FOS	chr11:17289094-17289465	MCF10A-Er-Src	breast:	n/a	chr11:17289271-17289282
37	CBX3	chr11:17288854-17289591	HCT-116	colon:	n/a	n/a
38	YY1	chr11:17289046-17289469	HCT-116	colon:	n/a	n/a
39	JUN	chr11:17289051-17289501	K562	blood:	n/a	n/a
40	MAX	chr11:17288958-17289510	A549	lung:	n/a	n/a
41	CTCF	chr11:17289080-17289230	A549	lung:	n/a	n/a
42	FOSL1	chr11:17288924-17289577	HCT-116	colon:	n/a	n/a
43	MAX	chr11:17289075-17289449	Hela-S3	cervix:	n/a	n/a
44	GTF3C2	chr11:17288889-17289461	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr11:17288877-17289580	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17286631..17289597-chr11:17295588..17297647,2	MCF-7	breast:
2	chr11:17287872..17290107-chr11:17373411..17375142,2	K562	blood:

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000188211	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12794099	1.00[ASN][1000 genomes]
rs12796879	1.00[ASN][1000 genomes]
rs71484763	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12789333	NUCB2	Cis_1M	lymphoblastoid	RTeQTL
rs12789333	KCNJ11	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17285800-17289800	Weak transcription	K562	blood
2	chr11:17286000-17289600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:17286000-17289600	Weak transcription	NHEK	skin
4	chr11:17286000-17294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:17286000-17294400	Weak transcription	Hela-S3	cervix
6	chr11:17286000-17297200	Weak transcription	A549	lung
7	chr11:17286000-17297400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:17288400-17289200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:17288800-17289200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:17288800-17289200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:17288800-17289200	Enhancers	Placenta	Placenta
12	chr11:17289000-17289200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:17289000-17289400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr11:17289000-17289400	Enhancers	Thymus	Thymus

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