Variant report

Variant	rs188422083
Chromosome Location	chr19:45225309-45225310
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	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	GATA3	chr19:45225209-45225622	T-47D	breast:	n/a	n/a
4	ELF1	chr19:45225256-45225936	GM12878	blood:	n/a	chr19:45225790-45225801
5	TCF12	chr19:45225157-45229529	A549	lung:	n/a	chr19:45228544-45228554
6	NFATC1	chr19:45225292-45226002	GM12878	blood:	n/a	n/a
7	PML	chr19:45225229-45226318	GM12878	blood:	n/a	n/a
8	GATA2	chr19:45225237-45225771	HUVEC	blood vessel:	n/a	chr19:45225745-45225755
9	IKZF1	chr19:45225263-45226312	GM12878	blood:	n/a	n/a
10	SP1	chr19:45225157-45226456	A549	lung:	n/a	chr19:45225460-45225481
11	STAT5A	chr19:45225179-45226223	GM12878	blood:	n/a	chr19:45225683-45225695 chr19:45225561-45225573
12	RUNX3	chr19:45225234-45226140	GM12878	blood:	n/a	chr19:45225524-45225539
13	POLR2A	chr19:45225230-45225966	GM12892	blood:	n/a	n/a
14	EP300	chr19:45225288-45225819	HepG2	liver:	n/a	chr19:45225791-45225805
15	ATF2	chr19:45225226-45225968	GM12878	blood:	n/a	n/a
16	EP300	chr19:45225199-45226453	A549	lung:	n/a	chr19:45225791-45225805
17	GATA3	chr19:45225249-45225649	MCF-7	breast:	n/a	n/a
18	POLR2A	chr19:45225197-45226025	HL-60	blood:	n/a	n/a
19	BCLAF1	chr19:45225297-45226028	GM12878	blood:	n/a	n/a
20	GATA3	chr19:45225223-45225636	T-47D	breast:	n/a	n/a
21	SIN3AK20	chr19:45225273-45225912	A549	lung:	n/a	n/a
22	FOXM1	chr19:45225244-45226052	GM12878	blood:	n/a	n/a
23	GATA3	chr19:45225212-45225725	MCF-7	breast:	n/a	n/a
24	MTA3	chr19:45225137-45226323	GM12878	blood:	n/a	n/a
25	EP300	chr19:45225243-45225682	T-47D	breast:	n/a	n/a
26	GATA3	chr19:45225221-45225857	SK-N-SH	brain:	n/a	chr19:45225745-45225755
27	PAX5	chr19:45225220-45226060	GM12878	blood:	n/a	n/a
28	NFIC	chr19:45225216-45226173	GM12878	blood:	n/a	n/a
29	EBF1	chr19:45225307-45225973	GM12878	blood:	n/a	n/a
30	RUNX3	chr19:45225202-45226398	GM12878	blood:	n/a	chr19:45225524-45225539
31	SPI1	chr19:45225303-45226401	GM12878	blood:	n/a	chr19:45225790-45225803 chr19:45225789-45225802 chr19:45226029-45226042 chr19:45225792-45225801
32	CEBPB	chr19:45225256-45226062	GM12878	blood:	n/a	n/a
33	GATA3	chr19:45225224-45225921	MCF-7	breast:	n/a	chr19:45225745-45225755
34	E2F6	chr19:45225214-45226439	A549	lung:	n/a	n/a
35	GATA3	chr19:45224980-45226155	A549	lung:	n/a	chr19:45225745-45225755
36	NFIC	chr19:45225192-45225942	GM12878	blood:	n/a	n/a
37	FOXM1	chr19:45225248-45226056	GM12878	blood:	n/a	n/a
38	REST	chr19:45225127-45226144	A549	lung:	n/a	n/a
39	GATA3	chr19:45225161-45225854	SK-N-SH	brain:	n/a	chr19:45225745-45225755
40	POLR2A	chr19:45225229-45226038	HL-60	blood:	n/a	n/a
41	MAX	chr19:45225179-45226422	A549	lung:	n/a	n/a
42	MAX	chr19:45225155-45229503	A549	lung:	n/a	chr19:45227299-45227308
43	SP1	chr19:45225276-45225932	GM12878	blood:	n/a	chr19:45225460-45225481
44	MTA3	chr19:45225204-45226010	GM12878	blood:	n/a	n/a
45	BCL3	chr19:45225204-45226446	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45223925..45225444-chr19:45347717..45349265,2	MCF-7	breast:
2	chr19:45205670..45208589-chr19:45222622..45225416,2	MCF-7	breast:
3	chr19:45221363..45224065-chr19:45224767..45227210,2	K562	blood:
4	chr19:45218763..45223660-chr19:45224514..45229778,7	MCF-7	breast:
5	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
6	chr19:45224693..45226623-chr19:45263139..45265924,2	K562	blood:
7	chr19:45223983..45225752-chr19:45308635..45310345,2	MCF-7	breast:
8	chr19:45216092..45218218-chr19:45224002..45225852,2	MCF-7	breast:
9	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:84 , 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	chr19:45222200-45225400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:45222400-45227000	Weak transcription	NHEK	skin
6	chr19:45222600-45225400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:45222600-45226000	Weak transcription	Right Ventricle	heart
8	chr19:45222600-45226800	Weak transcription	Esophagus	oesophagus
9	chr19:45222600-45226800	Weak transcription	HMEC	breast
10	chr19:45222600-45227000	Weak transcription	Small Intestine	intestine
11	chr19:45222600-45227000	Weak transcription	HSMM	muscle
12	chr19:45222600-45227400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:45222600-45227400	Weak transcription	Psoas Muscle	Psoas
14	chr19:45222600-45227400	Weak transcription	NHDF-Ad	bronchial
15	chr19:45222800-45225400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:45222800-45225400	Weak transcription	Gastric	stomach
17	chr19:45222800-45225400	Weak transcription	Lung	lung
18	chr19:45222800-45225400	Weak transcription	Right Atrium	heart
19	chr19:45222800-45225400	Enhancers	HepG2	liver
20	chr19:45222800-45225800	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:45222800-45226800	Weak transcription	Left Ventricle	heart
22	chr19:45222800-45226800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:45222800-45226800	Weak transcription	NHLF	lung
24	chr19:45222800-45227000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:45222800-45227000	Weak transcription	Fetal Kidney	kidney
26	chr19:45222800-45227400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:45222800-45227400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:45222800-45227400	Weak transcription	HSMMtube	muscle
29	chr19:45222800-45227400	Weak transcription	NH-A	brain
30	chr19:45222800-45227600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:45222800-45227800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:45222800-45228600	Weak transcription	Ovary	ovary
33	chr19:45222800-45231400	Weak transcription	Fetal Lung	lung
34	chr19:45223000-45225400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:45223000-45225400	Weak transcription	Colonic Mucosa	Colon
36	chr19:45223000-45225400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:45223600-45228600	Enhancers	Primary hematopoietic stem cells	blood
38	chr19:45223800-45229200	Enhancers	Spleen	Spleen
39	chr19:45224000-45225400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:45224000-45226600	Enhancers	Hela-S3	cervix
41	chr19:45224000-45228600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr19:45224000-45229200	Enhancers	Placenta	Placenta
43	chr19:45224200-45225400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr19:45224200-45225400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr19:45224400-45225600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr19:45224400-45226200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:45224400-45226400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:45224400-45226600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr19:45224400-45227000	Enhancers	Stomach Mucosa	stomach
50	chr19:45224400-45229200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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