Variant report

Variant	rs3916060
Chromosome Location	chr12:11093073-11093074
allele	C/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	TEAD4	chr12:11092910-11093425	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr12:11093033-11093259	H1-hESC	embryonic stem cell:	n/a	chr12:11093153-11093164
3	FOS	chr12:11092973-11093457	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr12:11092966-11093356	Hela-S3	cervix:	n/a	chr12:11093153-11093164
5	CEBPB	chr12:11092903-11093336	ECC-1	luminal epithelium:	n/a	chr12:11093153-11093164
6	FOS	chr12:11092987-11093393	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr12:11093060-11093210	HPAF	blood vessel:	n/a	n/a
8	CEBPB	chr12:11092932-11093388	A549	lung:	n/a	chr12:11093153-11093164
9	POLR2A	chr12:11093015-11093273	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFK	chr12:11092980-11093363	IMR90	lung:	n/a	chr12:11093155-11093171 chr12:11093153-11093173 chr12:11093156-11093170
11	MYC	chr12:11092972-11093457	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr12:11092983-11093376	ECC-1	luminal epithelium:	n/a	chr12:11093153-11093164
13	MAFK	chr12:11093067-11093313	HepG2	liver:	n/a	chr12:11093155-11093171 chr12:11093153-11093173 chr12:11093156-11093170
14	STAT3	chr12:11092994-11093324	MCF10A-Er-Src	breast:	n/a	chr12:11093132-11093144 chr12:11093018-11093025
15	CEBPB	chr12:11092983-11093349	A549	lung:	n/a	chr12:11093153-11093164
16	TEAD4	chr12:11092921-11093387	ECC-1	luminal epithelium:	n/a	n/a
17	CEBPB	chr12:11092967-11093366	IMR90	lung:	n/a	chr12:11093153-11093164
18	MYC	chr12:11092923-11093376	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr12:11092883-11093260	MCF10A-Er-Src	breast:	n/a	n/a
20	JUND	chr12:11092955-11093392	SK-N-SH	brain:	n/a	n/a
21	CEBPB	chr12:11092983-11093299	HepG2	liver:	n/a	chr12:11093153-11093164
22	FOS	chr12:11092993-11093435	MCF10A-Er-Src	breast:	n/a	n/a
23	MAFK	chr12:11093034-11093309	HepG2	liver:	n/a	chr12:11093155-11093171 chr12:11093153-11093173 chr12:11093156-11093170
24	STAT3	chr12:11093054-11093356	MCF10A-Er-Src	breast:	n/a	chr12:11093132-11093144
25	MAFK	chr12:11093001-11093326	Hela-S3	cervix:	n/a	chr12:11093155-11093171 chr12:11093153-11093173 chr12:11093156-11093170
26	FOS	chr12:11092982-11093451	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr12:11092948-11093384	MCF10A-Er-Src	breast:	n/a	chr12:11093132-11093144 chr12:11093018-11093025

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11091072..11093170-chr12:11322389..11325259,3	MCF-7	breast:

Variant related genes	Relation type
TAS2R14	TF binding region
ENSG00000212127	Chromatin interaction
ENSG00000111215	Chromatin interaction
ENSG00000256712	Chromatin interaction
ENSG00000256537	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11054083	0.90[EUR][1000 genomes]
rs72656639	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv898777	chr12:11045512-11129433	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv832330	chr12:11077678-11206957	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11033800-11101600	Weak transcription	Ovary	ovary
2	chr12:11069200-11094800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:11078400-11095800	Weak transcription	Primary B cells from cord blood	blood
4	chr12:11080000-11095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:11080000-11101600	Weak transcription	Left Ventricle	heart
6	chr12:11080400-11095400	Weak transcription	Psoas Muscle	Psoas
7	chr12:11082000-11101000	Weak transcription	Primary T cells from cord blood	blood
8	chr12:11082200-11094800	Weak transcription	HepG2	liver
9	chr12:11088200-11093200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:11089600-11094800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:11091400-11095600	Enhancers	NHEK	skin
12	chr12:11091600-11095600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:11091600-11095800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:11091600-11095800	Enhancers	HMEC	breast
15	chr12:11092200-11093200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:11092600-11093200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:11092600-11093400	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:11092800-11093400	Enhancers	A549	lung
19	chr12:11092800-11095000	Weak transcription	GM12878-XiMat	blood
20	chr12:11093000-11093200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr12:11093000-11094200	Enhancers	NH-A	brain
22	chr12:11093000-11095400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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