Variant report

Variant	rs565024739
Chromosome Location	chr12:68382747-68382748
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	ATF2	chr12:68382271-68383374	GM12878	blood:	n/a	n/a
2	IKZF1	chr12:68382383-68383541	GM12878	blood:	n/a	n/a
3	EP300	chr12:68382295-68383309	GM12878	blood:	n/a	chr12:68382841-68382855 chr12:68382747-68382757
4	NFIC	chr12:68382308-68383444	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr12:68382347-68383373	GM12878	blood:	n/a	n/a
6	FOXM1	chr12:68382393-68383461	GM12878	blood:	n/a	n/a
7	CHD2	chr12:68382270-68382798	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:68382309-68383539	GM12878	blood:	n/a	n/a
9	NFIC	chr12:68382425-68383436	GM12878	blood:	n/a	n/a
10	STAT3	chr12:68382161-68382752	GM12878	blood:	n/a	n/a
11	MTA3	chr12:68382398-68383381	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:68381825-68383956	Raji	blood:	n/a	n/a
13	BCL11A	chr12:68382319-68382803	GM12878	blood:	n/a	n/a
14	RUNX3	chr12:68382296-68382863	GM12878	blood:	n/a	n/a
15	RUNX3	chr12:68382183-68382953	GM12878	blood:	n/a	n/a
16	ZNF143	chr12:68382367-68382748	GM12878	blood:	n/a	n/a
17	POU2F2	chr12:68382379-68382813	GM12878	blood:	n/a	chr12:68382614-68382626 chr12:68382609-68382622 chr12:68382594-68382616 chr12:68382602-68382609 chr12:68382612-68382627 chr12:68382615-68382624 chr12:68382600-68382610 chr12:68382608-68382630 chr12:68382615-68382625 chr12:68382615-68382625 chr12:68382614-68382624 chr12:68382609-68382622 chr12:68382610-68382628 chr12:68382601-68382610 chr12:68382612-68382626 chr12:68382596-68382614 chr12:68382613-68382624 chr12:68382616-68382623 chr12:68382613-68382624
18	CUX1	chr12:68382588-68383056	GM12878	blood:	n/a	n/a
19	FOXM1	chr12:68382408-68382889	GM12878	blood:	n/a	n/a
20	EP300	chr12:68382387-68383345	GM12878	blood:	n/a	chr12:68382841-68382855 chr12:68382747-68382757
21	EBF1	chr12:68382379-68383783	GM12878	blood:	n/a	chr12:68383576-68383587
22	STAT5A	chr12:68382600-68383402	GM12878	blood:	n/a	n/a
23	ATF2	chr12:68382286-68383281	GM12878	blood:	n/a	n/a
24	POU2F2	chr12:68382266-68382848	GM12878	blood:	n/a	chr12:68382614-68382626 chr12:68382609-68382622 chr12:68382594-68382616 chr12:68382602-68382609 chr12:68382612-68382627 chr12:68382615-68382624 chr12:68382600-68382610 chr12:68382608-68382630 chr12:68382615-68382625 chr12:68382615-68382625 chr12:68382614-68382624 chr12:68382609-68382622 chr12:68382610-68382628 chr12:68382601-68382610 chr12:68382612-68382626 chr12:68382596-68382614 chr12:68382613-68382624 chr12:68382616-68382623 chr12:68382613-68382624

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68379962..68383054-chr12:68386184..68387987,3	MCF-7	breast:

Variant related genes	Relation type
IFNG-AS1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv975510	chr12:68382193-68385232	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv975509	chr12:68382193-68405026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68381000-68382800	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:68381400-68382800	Enhancers	Primary B cells from cord blood	blood
3	chr12:68381400-68383800	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:68381800-68383200	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:68381800-68383200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:68382000-68382800	Enhancers	Primary T cells from cord blood	blood
7	chr12:68382000-68383200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr12:68382200-68382800	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr12:68382200-68383000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr12:68382200-68383200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr12:68382200-68383200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:68382200-68383400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:68382200-68383400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:68382200-68384400	Flanking Active TSS	GM12878-XiMat	blood
15	chr12:68382400-68383200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr12:68382400-68383200	Enhancers	Dnd41	blood
17	chr12:68382400-68383400	Enhancers	Fetal Thymus	thymus
18	chr12:68382400-68383600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:68382400-68383800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:68382400-68383800	Enhancers	Thymus	Thymus
21	chr12:68382600-68382800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:68382600-68383600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:68382600-68383800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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