Variant report

Variant	rs548556208
Chromosome Location	chr12:66430647-66430648
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	RXRA	chr12:66429960-66430663	SK-N-SH	brain:	n/a	n/a
2	MAZ	chr12:66429968-66430684	IMR90	lung:	n/a	n/a
3	MAX	chr12:66430034-66430659	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr12:66428971-66430761	SK-N-SH	brain:	n/a	n/a
5	JUND	chr12:66429983-66430766	SK-N-SH	brain:	n/a	n/a
6	MEF2A	chr12:66429098-66430715	SK-N-SH	brain:	n/a	chr12:66430235-66430246 chr12:66429821-66429842 chr12:66430234-66430248 chr12:66430229-66430250 chr12:66429313-66429321 chr12:66430229-66430250 chr12:66429824-66429835
7	TEAD4	chr12:66429947-66430689	ECC-1	luminal epithelium:	n/a	n/a
8	MEF2A	chr12:66429764-66430657	SK-N-SH	brain:	n/a	chr12:66430235-66430246 chr12:66429821-66429842 chr12:66430234-66430248 chr12:66430229-66430250 chr12:66430229-66430250 chr12:66429824-66429835
9	FOS	chr12:66430116-66430656	MCF10A-Er-Src	breast:	n/a	n/a
10	NFIC	chr12:66429955-66430695	ECC-1	luminal epithelium:	n/a	n/a
11	TEAD4	chr12:66429896-66430713	SK-N-SH	brain:	n/a	n/a
12	SRF	chr12:66429966-66430661	ECC-1	luminal epithelium:	n/a	chr12:66430201-66430211
13	PBX3	chr12:66429962-66430710	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr12:66428962-66430662	SK-N-SH	brain:	n/a	chr12:66429370-66429387 chr12:66429370-66429386
15	TCF12	chr12:66429860-66430764	SK-N-SH	brain:	n/a	n/a
16	EP300	chr12:66429903-66430864	ECC-1	luminal epithelium:	n/a	chr12:66430240-66430254
17	SP1	chr12:66429919-66430681	HCT-116	colon:	n/a	n/a
18	EP300	chr12:66429802-66430720	SK-N-SH	brain:	n/a	chr12:66430240-66430254
19	EP300	chr12:66428988-66430752	SK-N-SH	brain:	n/a	chr12:66429463-66429477 chr12:66430240-66430254 chr12:66429720-66429734
20	FOSL2	chr12:66429877-66430664	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr12:66429920-66430672	ECC-1	luminal epithelium:	n/a	n/a
22	GATA3	chr12:66429909-66430717	SK-N-SH	brain:	n/a	n/a
23	JUND	chr12:66429982-66430718	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr12:66429844-66430695	SK-N-SH	brain:	n/a	n/a
25	PBX3	chr12:66429919-66430686	SK-N-SH	brain:	n/a	n/a
26	JUND	chr12:66429917-66430654	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000213343	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899213	chr12:66389968-66500036	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv832446	chr12:66393863-66501484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv975508	chr12:66430304-66435114	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66428800-66431000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:66429000-66430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:66429000-66430800	Enhancers	Osteobl	bone
4	chr12:66429000-66431000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr12:66429000-66431000	Enhancers	NHLF	lung
6	chr12:66429200-66430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:66429200-66430800	Enhancers	HUVEC	blood vessel
8	chr12:66429200-66431000	Enhancers	HMEC	breast
9	chr12:66429200-66431000	Enhancers	HSMM	muscle
10	chr12:66429200-66431000	Enhancers	NHDF-Ad	bronchial
11	chr12:66429200-66431800	Enhancers	NHEK	skin
12	chr12:66429400-66430800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:66429400-66431000	Enhancers	Fetal Heart	heart
14	chr12:66429400-66431200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:66429400-66432000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:66429600-66430800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:66429600-66430800	Enhancers	Stomach Smooth Muscle	stomach
18	chr12:66429600-66430800	Enhancers	HSMMtube	muscle
19	chr12:66429800-66431000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:66430000-66430800	Enhancers	NH-A	brain
21	chr12:66430600-66431400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:66430600-66433600	Weak transcription	HepG2	liver
23	chr12:66430600-66438000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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