Variant report

Variant	rs190977744
Chromosome Location	chr12:48883174-48883175
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	RUNX3	chr12:48882700-48883303	GM12878	blood:	n/a	n/a
2	FOS	chr12:48882762-48883225	MCF10A-Er-Src	breast:	n/a	n/a
3	BATF	chr12:48882829-48883217	GM12878	blood:	n/a	chr12:48883023-48883034
4	BHLHE40	chr12:48882898-48883195	GM12878	blood:	n/a	n/a
5	STAT3	chr12:48882896-48883206	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr12:48882797-48883582	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr12:48882814-48883236	GM12878	blood:	n/a	n/a
8	SP1	chr12:48882789-48883194	GM12878	blood:	n/a	n/a
9	NFIC	chr12:48882423-48883336	GM12878	blood:	n/a	n/a
10	MYC	chr12:48882824-48883500	MCF10A-Er-Src	breast:	n/a	n/a
11	SRF	chr12:48882914-48883195	GM12878	blood:	n/a	chr12:48883067-48883080 chr12:48883069-48883078 chr12:48883068-48883082 chr12:48883068-48883079
12	IRF4	chr12:48882807-48883262	GM12878	blood:	n/a	n/a
13	EBF1	chr12:48882732-48883206	GM12878	blood:	n/a	chr12:48882931-48882942
14	POLR2A	chr12:48882749-48883524	MCF10A-Er-Src	breast:	n/a	n/a
15	SRF	chr12:48882885-48883223	GM12878	blood:	n/a	chr12:48883067-48883080 chr12:48883069-48883078 chr12:48883068-48883082 chr12:48883068-48883079
16	FOS	chr12:48882837-48883421	MCF10A-Er-Src	breast:	n/a	n/a
17	BCLAF1	chr12:48882751-48883247	GM12878	blood:	n/a	n/a
18	TBP	chr12:48882671-48883205	GM12878	blood:	n/a	n/a
19	BCL11A	chr12:48882852-48883267	GM12878	blood:	n/a	n/a
20	STAT3	chr12:48882800-48883232	MCF10A-Er-Src	breast:	n/a	n/a
21	FOXM1	chr12:48882633-48883283	GM12878	blood:	n/a	n/a
22	FOS	chr12:48882823-48883213	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr12:48882896-48883192	GM12878	blood:	n/a	n/a
24	EP300	chr12:48882788-48883206	GM12878	blood:	n/a	n/a
25	E2F4	chr12:48882935-48883203	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr12:48882825-48883232	MCF10A-Er-Src	breast:	n/a	n/a
27	CEBPB	chr12:48882593-48883325	GM12878	blood:	n/a	n/a
28	STAT3	chr12:48882822-48883227	MCF10A-Er-Src	breast:	n/a	n/a
29	RUNX3	chr12:48882835-48883231	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48882871..48884702-chr12:48885100..48887755,2	K562	blood:

Variant related genes	Relation type
C12orf54	TF binding region
ENSG00000177627	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv975416	chr12:48882416-48893049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48881600-48883800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:48881600-48884000	Enhancers	HMEC	breast
3	chr12:48882400-48884000	Enhancers	GM12878-XiMat	blood
4	chr12:48882600-48883600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:48882800-48883200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:48882800-48883400	Flanking Active TSS	NHEK	skin
7	chr12:48883000-48883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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