Variant report

Variant	rs189899613
Chromosome Location	chr3:60067517-60067518
allele	C/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	chr3:60067246-60067944	GM12878	blood:	n/a	chr3:60067617-60067626 chr3:60067617-60067626
2	SPI1	chr3:60067453-60067818	HL-60	blood:	n/a	chr3:60067604-60067611 chr3:60067601-60067614 chr3:60067600-60067613 chr3:60067603-60067612
3	SPI1	chr3:60067424-60067759	GM12891	blood:	n/a	chr3:60067604-60067611 chr3:60067601-60067614 chr3:60067600-60067613 chr3:60067603-60067612
4	EP300	chr3:60067462-60067744	GM12878	blood:	n/a	chr3:60067602-60067616 chr3:60067549-60067563 chr3:60067603-60067612
5	ZNF384	chr3:60067425-60067953	GM12878	blood:	n/a	n/a
6	TBP	chr3:60067504-60067526	GM12878	blood:	n/a	n/a
7	SPI1	chr3:60067303-60067848	HL-60	blood:	n/a	chr3:60067604-60067611 chr3:60067601-60067614 chr3:60067600-60067613 chr3:60067603-60067612
8	RUNX3	chr3:60067367-60067819	GM12878	blood:	n/a	chr3:60067617-60067626 chr3:60067617-60067626
9	EP300	chr3:60067422-60067771	GM12878	blood:	n/a	chr3:60067602-60067616 chr3:60067549-60067563 chr3:60067603-60067612
10	NFIC	chr3:60067361-60067870	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:60067413-60067707	GM12878	blood:	n/a	n/a
12	SPI1	chr3:60067391-60067775	GM12878	blood:	n/a	chr3:60067604-60067611 chr3:60067601-60067614 chr3:60067600-60067613 chr3:60067603-60067612
13	IKZF1	chr3:60067430-60067687	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:60065873-60068059	Raji	blood:	n/a	n/a
15	SPI1	chr3:60067424-60067795	GM12878	blood:	n/a	chr3:60067604-60067611 chr3:60067601-60067614 chr3:60067600-60067613 chr3:60067603-60067612
16	RCOR1	chr3:60067483-60067709	GM12878	blood:	n/a	n/a
17	EBF1	chr3:60067421-60067688	GM12878	blood:	n/a	n/a
18	SPI1	chr3:60067400-60067782	GM12891	blood:	n/a	chr3:60067604-60067611 chr3:60067601-60067614 chr3:60067600-60067613 chr3:60067603-60067612
19	EBF1	chr3:60067428-60067719	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FHIT	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv834707	chr3:60005679-60184046	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2752010	chr3:60067396-60288428	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60061800-60068400	Flanking Active TSS	Dnd41	blood
2	chr3:60063800-60068000	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr3:60064600-60068400	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:60064800-60068000	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:60064800-60068000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:60066000-60067800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr3:60066000-60068200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr3:60066200-60068200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr3:60066400-60068000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:60066400-60068200	Enhancers	GM12878-XiMat	blood
11	chr3:60066600-60067800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
12	chr3:60066600-60068000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr3:60066800-60068200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr3:60066800-60068600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr3:60067000-60068000	Enhancers	Fetal Thymus	thymus
16	chr3:60067000-60068400	Enhancers	Thymus	Thymus
17	chr3:60067200-60067800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr3:60067200-60067800	Active TSS	Primary T cells fromperipheralblood	blood
19	chr3:60067200-60067800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:60067200-60068000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:60067200-60072400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:60067400-60067600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:60067400-60067800	Active TSS	Duodenum Mucosa	Duodenum
24	chr3:60067400-60068000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr3:60067400-60068600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:60067400-60070000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:60067400-60072800	Weak transcription	Stomach Mucosa	stomach

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