Variant report

Variant	rs12426501
Chromosome Location	chr12:7755055-7755056
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	FOS	chr12:7754860-7755201	MCF10A-Er-Src	breast:	n/a	chr12:7755022-7755033
2	FOS	chr12:7754852-7755237	MCF10A-Er-Src	breast:	n/a	chr12:7755022-7755033
3	STAT3	chr12:7754856-7755203	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:7754840-7755223	MCF10A-Er-Src	breast:	n/a	chr12:7755022-7755033
5	ATF1	chr12:7754959-7755136	K562	blood:	n/a	n/a
6	STAT3	chr12:7754870-7755205	MCF10A-Er-Src	breast:	n/a	n/a
7	UBTF	chr12:7755049-7755123	K562	blood:	n/a	n/a
8	FOS	chr12:7754841-7755198	HUVEC	blood vessel:	n/a	chr12:7755022-7755033
9	JUN	chr12:7754948-7755122	K562	blood:	n/a	n/a
10	FOSL1	chr12:7754838-7755293	HCT-116	colon:	n/a	n/a
11	STAT3	chr12:7754841-7755224	MCF10A-Er-Src	breast:	n/a	n/a
12	JUND	chr12:7754888-7755161	HepG2	liver:	n/a	chr12:7755022-7755033
13	MYC	chr12:7754950-7755121	MCF10A-Er-Src	breast:	n/a	n/a
14	JUND	chr12:7754852-7755215	K562	blood:	n/a	chr12:7755022-7755033
15	MYC	chr12:7755001-7755150	MCF10A-Er-Src	breast:	n/a	n/a
16	JUND	chr12:7754819-7755265	HCT-116	colon:	n/a	chr12:7755022-7755033
17	FOSL2	chr12:7754932-7755206	SK-N-SH	brain:	n/a	n/a
18	FOS	chr12:7754859-7755218	MCF10A-Er-Src	breast:	n/a	chr12:7755022-7755033
19	E2F4	chr12:7755003-7755134	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL1	chr12:7754757-7755266	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000255977	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12424996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110217	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2377085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2889550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4883002	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4883293	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61936977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61936978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61936979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61936981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61939705	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61939713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1041155	chr12:7655137-7821891	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045650	chr12:7655137-7824995	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv557270	chr12:7727544-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv468990	chr12:7729433-7801532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv557271	chr12:7729433-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv826213	chr12:7730932-7830644	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7754600-7755200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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