Variant report

Variant	rs193245853
Chromosome Location	chr19:45225498-45225499
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	SP1	chr19:45225302-45225822	GM12878	blood:	n/a	chr19:45225460-45225481
2	SPI1	chr19:45225213-45226184	HL-60	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45226029-45226042 chr19:45225792-45225801
3	BATF	chr19:45225443-45225919	GM12878	blood:	n/a	n/a
4	GATA3	chr19:45225209-45225622	T-47D	breast:	n/a	n/a
5	TCF12	chr19:45225490-45225904	GM12878	blood:	n/a	n/a
6	ELF1	chr19:45225256-45225936	GM12878	blood:	n/a	chr19:45225790-45225801
7	SPI1	chr19:45225430-45226045	HL-60	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45226029-45226042 chr19:45225792-45225801
8	TCF12	chr19:45225157-45229529	A549	lung:	n/a	chr19:45228544-45228554
9	MXI1	chr19:45225460-45225864	GM12878	blood:	n/a	n/a
10	NFATC1	chr19:45225292-45226002	GM12878	blood:	n/a	n/a
11	RELA	chr19:45225404-45225885	GM15510	blood:	n/a	n/a
12	PML	chr19:45225229-45226318	GM12878	blood:	n/a	n/a
13	GATA2	chr19:45225237-45225771	HUVEC	blood vessel:	n/a	chr19:45225745-45225755
14	MYC	chr19:45225376-45225932	NB4	blood:	n/a	n/a
15	SMC3	chr19:45225348-45225989	GM12878	blood:	n/a	n/a
16	IKZF1	chr19:45225263-45226312	GM12878	blood:	n/a	n/a
17	EP300	chr19:45225439-45225776	GM12878	blood:	n/a	n/a
18	SP1	chr19:45225157-45226456	A549	lung:	n/a	chr19:45225460-45225481
19	STAT5A	chr19:45225179-45226223	GM12878	blood:	n/a	chr19:45225683-45225695 chr19:45225561-45225573
20	BCL11A	chr19:45225390-45225876	GM12878	blood:	n/a	n/a
21	RUNX3	chr19:45225234-45226140	GM12878	blood:	n/a	chr19:45225524-45225539
22	MAZ	chr19:45225376-45225864	GM12878	blood:	n/a	n/a
23	IRF4	chr19:45225376-45226065	GM12878	blood:	n/a	n/a
24	WRNIP1	chr19:45225441-45225887	GM12878	blood:	n/a	n/a
25	BCL3	chr19:45225325-45225938	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:45225230-45225966	GM12892	blood:	n/a	n/a
27	EP300	chr19:45225288-45225819	HepG2	liver:	n/a	chr19:45225791-45225805
28	ATF2	chr19:45225226-45225968	GM12878	blood:	n/a	n/a
29	STAT5A	chr19:45225400-45225801	GM12878	blood:	n/a	chr19:45225683-45225695 chr19:45225561-45225573
30	EP300	chr19:45225199-45226453	A549	lung:	n/a	chr19:45225791-45225805
31	GATA3	chr19:45225249-45225649	MCF-7	breast:	n/a	n/a
32	SPI1	chr19:45225410-45225578	K562	blood:	n/a	n/a
33	BHLHE40	chr19:45225405-45226023	GM12878	blood:	n/a	n/a
34	RELA	chr19:45225391-45225941	GM19193	blood:	n/a	n/a
35	EGR1	chr19:45225455-45225629	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:45225197-45226025	HL-60	blood:	n/a	n/a
37	BCLAF1	chr19:45225297-45226028	GM12878	blood:	n/a	n/a
38	PAX5	chr19:45225490-45225970	GM12878	blood:	n/a	n/a
39	EBF1	chr19:45225356-45225654	GM12878	blood:	n/a	n/a
40	FOXA1	chr19:45225323-45225606	T-47D	breast:	n/a	n/a
41	GATA3	chr19:45225223-45225636	T-47D	breast:	n/a	n/a
42	EP300	chr19:45225454-45225914	GM12878	blood:	n/a	chr19:45225791-45225805
43	SIN3AK20	chr19:45225273-45225912	A549	lung:	n/a	n/a
44	FOXM1	chr19:45225244-45226052	GM12878	blood:	n/a	n/a
45	GATA3	chr19:45225212-45225725	MCF-7	breast:	n/a	n/a
46	MEF2A	chr19:45225430-45225964	GM12878	blood:	n/a	n/a
47	STAT3	chr19:45225476-45225896	GM12878	blood:	n/a	chr19:45225683-45225695 chr19:45225561-45225573
48	MTA3	chr19:45225137-45226323	GM12878	blood:	n/a	n/a
49	RELA	chr19:45225314-45226268	GM12891	blood:	n/a	n/a
50	RELA	chr19:45225383-45226067	GM18505	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	chr19:45223983..45225752-chr19:45308635..45310345,2	MCF-7	breast:
6	chr19:45216092..45218218-chr19:45224002..45225852,2	MCF-7	breast:
7	chr19:45219202..45222922-chr19:45224477..45228949,4	K562	blood:

Variant related genes	Relation type
ENSG00000266903	TF binding region
ENSG00000069399	Chromatin interaction
ENSG00000266903	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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45221600-45225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr19:45221600-45225800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:45222000-45226600	Enhancers	Liver	Liver
4	chr19:45222400-45227000	Weak transcription	NHEK	skin
5	chr19:45222600-45226000	Weak transcription	Right Ventricle	heart
6	chr19:45222600-45226800	Weak transcription	Esophagus	oesophagus
7	chr19:45222600-45226800	Weak transcription	HMEC	breast
8	chr19:45222600-45227000	Weak transcription	Small Intestine	intestine
9	chr19:45222600-45227000	Weak transcription	HSMM	muscle
10	chr19:45222600-45227400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr19:45222600-45227400	Weak transcription	Psoas Muscle	Psoas
12	chr19:45222600-45227400	Weak transcription	NHDF-Ad	bronchial
13	chr19:45222800-45225800	Weak transcription	Brain Hippocampus Middle	brain
14	chr19:45222800-45226800	Weak transcription	Left Ventricle	heart
15	chr19:45222800-45226800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:45222800-45226800	Weak transcription	NHLF	lung
17	chr19:45222800-45227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:45222800-45227000	Weak transcription	Fetal Kidney	kidney
19	chr19:45222800-45227400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:45222800-45227400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:45222800-45227400	Weak transcription	HSMMtube	muscle
22	chr19:45222800-45227400	Weak transcription	NH-A	brain
23	chr19:45222800-45227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:45222800-45227800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:45222800-45228600	Weak transcription	Ovary	ovary
26	chr19:45222800-45231400	Weak transcription	Fetal Lung	lung
27	chr19:45223600-45228600	Enhancers	Primary hematopoietic stem cells	blood
28	chr19:45223800-45229200	Enhancers	Spleen	Spleen
29	chr19:45224000-45226600	Enhancers	Hela-S3	cervix
30	chr19:45224000-45228600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr19:45224000-45229200	Enhancers	Placenta	Placenta
32	chr19:45224400-45225600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:45224400-45226200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:45224400-45226400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr19:45224400-45226600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr19:45224400-45227000	Enhancers	Stomach Mucosa	stomach
37	chr19:45224400-45229200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:45224600-45225600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:45224600-45226800	Weak transcription	Pancreas	Pancrea
40	chr19:45224600-45227400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr19:45224600-45228600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr19:45225000-45226000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:45225000-45226200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr19:45225000-45226600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr19:45225000-45227400	Weak transcription	Osteobl	bone
46	chr19:45225000-45229000	Enhancers	Fetal Thymus	thymus
47	chr19:45225000-45229200	Enhancers	Adipose Nuclei	Adipose
48	chr19:45225000-45229400	Enhancers	Fetal Muscle Trunk	muscle
49	chr19:45225200-45225600	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr19:45225200-45225800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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