Variant report

Variant	rs551360190
Chromosome Location	chr19:45225938-45225939
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	SPI1	chr19:45225213-45226184	HL-60	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45226029-45226042 chr19:45225792-45225801
2	SPI1	chr19:45225430-45226045	HL-60	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45226029-45226042 chr19:45225792-45225801
3	TCF12	chr19:45225157-45229529	A549	lung:	n/a	chr19:45228544-45228554
4	NFATC1	chr19:45225292-45226002	GM12878	blood:	n/a	n/a
5	PML	chr19:45225229-45226318	GM12878	blood:	n/a	n/a
6	SMC3	chr19:45225348-45225989	GM12878	blood:	n/a	n/a
7	IKZF1	chr19:45225263-45226312	GM12878	blood:	n/a	n/a
8	SP1	chr19:45225157-45226456	A549	lung:	n/a	chr19:45225460-45225481
9	STAT5A	chr19:45225179-45226223	GM12878	blood:	n/a	chr19:45225683-45225695 chr19:45225561-45225573
10	RUNX3	chr19:45225234-45226140	GM12878	blood:	n/a	chr19:45225524-45225539
11	IRF4	chr19:45225376-45226065	GM12878	blood:	n/a	n/a
12	SPI1	chr19:45225678-45225946	K562	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45225792-45225801
13	BCL3	chr19:45225325-45225938	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:45225230-45225966	GM12892	blood:	n/a	n/a
15	ATF2	chr19:45225226-45225968	GM12878	blood:	n/a	n/a
16	EP300	chr19:45225199-45226453	A549	lung:	n/a	chr19:45225791-45225805
17	BHLHE40	chr19:45225405-45226023	GM12878	blood:	n/a	n/a
18	RELA	chr19:45225391-45225941	GM19193	blood:	n/a	n/a
19	POLR2A	chr19:45225197-45226025	HL-60	blood:	n/a	n/a
20	BCLAF1	chr19:45225297-45226028	GM12878	blood:	n/a	n/a
21	PAX5	chr19:45225490-45225970	GM12878	blood:	n/a	n/a
22	SPI1	chr19:45225508-45225945	GM12878	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45225792-45225801
23	FOXM1	chr19:45225244-45226052	GM12878	blood:	n/a	n/a
24	MEF2A	chr19:45225430-45225964	GM12878	blood:	n/a	n/a
25	MTA3	chr19:45225137-45226323	GM12878	blood:	n/a	n/a
26	RELA	chr19:45225314-45226268	GM12891	blood:	n/a	n/a
27	REST	chr19:45225899-45226363	A549	lung:	n/a	n/a
28	RELA	chr19:45225383-45226067	GM18505	blood:	n/a	n/a
29	RELA	chr19:45225365-45225939	GM12892	blood:	n/a	n/a
30	RELA	chr19:45225398-45225941	GM10847	blood:	n/a	n/a
31	SPI1	chr19:45225356-45226032	GM12891	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45225792-45225801
32	PAX5	chr19:45225220-45226060	GM12878	blood:	n/a	n/a
33	NFIC	chr19:45225216-45226173	GM12878	blood:	n/a	n/a
34	EBF1	chr19:45225307-45225973	GM12878	blood:	n/a	n/a
35	EP300	chr19:45225363-45226188	GM12878	blood:	n/a	chr19:45225791-45225805
36	EP300	chr19:45225385-45225950	GM12878	blood:	n/a	chr19:45225791-45225805
37	SPI1	chr19:45225384-45225998	GM12878	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45225792-45225801
38	RUNX3	chr19:45225202-45226398	GM12878	blood:	n/a	chr19:45225524-45225539
39	TBL1XR1	chr19:45225400-45226118	GM12878	blood:	n/a	n/a
40	SPI1	chr19:45225303-45226401	GM12878	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45226029-45226042 chr19:45225792-45225801
41	CEBPB	chr19:45225256-45226062	GM12878	blood:	n/a	n/a
42	RELA	chr19:45225360-45226058	GM19099	blood:	n/a	n/a
43	E2F6	chr19:45225214-45226439	A549	lung:	n/a	n/a
44	NFATC1	chr19:45225441-45225965	GM12878	blood:	n/a	n/a
45	GATA3	chr19:45224980-45226155	A549	lung:	n/a	chr19:45225745-45225755
46	NFIC	chr19:45225192-45225942	GM12878	blood:	n/a	n/a
47	RCOR1	chr19:45225339-45226102	GM12878	blood:	n/a	n/a
48	SPI1	chr19:45225362-45226034	GM12891	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45225792-45225801
49	RELA	chr19:45225354-45226001	GM18951	blood:	n/a	n/a
50	FOXM1	chr19:45225248-45226056	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45221363..45224065-chr19:45224767..45227210,2	K562	blood:
2	chr19:45218763..45223660-chr19:45224514..45229778,7	MCF-7	breast:
3	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
4	chr19:45224693..45226623-chr19:45263139..45265924,2	K562	blood:
5	chr19:45225615..45227303-chr19:45305685..45307251,2	MCF-7	breast:
6	chr19:45225838..45229249-chr19:45276158..45277958,4	MCF-7	breast:
7	chr19:45225929..45228850-chr19:45345797..45349364,6	MCF-7	breast:
8	chr19:45196825..45199770-chr19:45225839..45228491,3	MCF-7	breast:
9	chr19:45222128..45223998-chr19:45225883..45227558,2	MCF-7	breast:
10	chr19:45219202..45222922-chr19:45224477..45228949,4	K562	blood:

Variant related genes	Relation type
ENSG00000266903	TF binding region
ENSG00000266903	Chromatin interaction
ENSG00000069399	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45222000-45226600	Enhancers	Liver	Liver
2	chr19:45222400-45227000	Weak transcription	NHEK	skin
3	chr19:45222600-45226000	Weak transcription	Right Ventricle	heart
4	chr19:45222600-45226800	Weak transcription	Esophagus	oesophagus
5	chr19:45222600-45226800	Weak transcription	HMEC	breast
6	chr19:45222600-45227000	Weak transcription	Small Intestine	intestine
7	chr19:45222600-45227000	Weak transcription	HSMM	muscle
8	chr19:45222600-45227400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:45222600-45227400	Weak transcription	Psoas Muscle	Psoas
10	chr19:45222600-45227400	Weak transcription	NHDF-Ad	bronchial
11	chr19:45222800-45226800	Weak transcription	Left Ventricle	heart
12	chr19:45222800-45226800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:45222800-45226800	Weak transcription	NHLF	lung
14	chr19:45222800-45227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:45222800-45227000	Weak transcription	Fetal Kidney	kidney
16	chr19:45222800-45227400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:45222800-45227400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:45222800-45227400	Weak transcription	HSMMtube	muscle
19	chr19:45222800-45227400	Weak transcription	NH-A	brain
20	chr19:45222800-45227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:45222800-45227800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:45222800-45228600	Weak transcription	Ovary	ovary
23	chr19:45222800-45231400	Weak transcription	Fetal Lung	lung
24	chr19:45223600-45228600	Enhancers	Primary hematopoietic stem cells	blood
25	chr19:45223800-45229200	Enhancers	Spleen	Spleen
26	chr19:45224000-45226600	Enhancers	Hela-S3	cervix
27	chr19:45224000-45228600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr19:45224000-45229200	Enhancers	Placenta	Placenta
29	chr19:45224400-45226200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr19:45224400-45226400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:45224400-45226600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr19:45224400-45227000	Enhancers	Stomach Mucosa	stomach
33	chr19:45224400-45229200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:45224600-45226800	Weak transcription	Pancreas	Pancrea
35	chr19:45224600-45227400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr19:45224600-45228600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:45225000-45226000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:45225000-45226200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr19:45225000-45226600	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:45225000-45227400	Weak transcription	Osteobl	bone
41	chr19:45225000-45229000	Enhancers	Fetal Thymus	thymus
42	chr19:45225000-45229200	Enhancers	Adipose Nuclei	Adipose
43	chr19:45225000-45229400	Enhancers	Fetal Muscle Trunk	muscle
44	chr19:45225200-45226000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:45225200-45226000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:45225200-45226000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:45225200-45226000	Flanking Active TSS	GM12878-XiMat	blood
48	chr19:45225200-45226200	Enhancers	Fetal Muscle Leg	muscle
49	chr19:45225200-45226400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr19:45225200-45226400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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