Variant report

Variant	rs189145652
Chromosome Location	chr19:45253022-45253023
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	CEBPB	chr19:45252692-45253136	A549	lung:	n/a	chr19:45253056-45253069
2	MTA3	chr19:45252537-45253543	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:45252552-45253217	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr19:45253000-45253257	HepG2	liver:	n/a	n/a
5	STAT5A	chr19:45253021-45253525	GM12878	blood:	n/a	chr19:45253090-45253098
6	CHD1	chr19:45250110-45253686	IMR90	lung:	n/a	chr19:45251838-45251848
7	BCL3	chr19:45248078-45253687	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
8	WRNIP1	chr19:45252626-45253469	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:45252471-45253044	MCF10A-Er-Src	breast:	n/a	n/a
10	CEBPB	chr19:45253015-45253102	K562	blood:	n/a	chr19:45253056-45253069
11	POLR2A	chr19:45251877-45253521	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr19:45249872-45253681	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:45252236-45253600	U87	brain:	n/a	n/a
14	FOSL2	chr19:45252606-45253666	A549	lung:	n/a	chr19:45252886-45252895
15	CEBPB	chr19:45252626-45253133	Hela-S3	cervix:	n/a	chr19:45253056-45253069
16	POLR2A	chr19:45252292-45253527	A549	lung:	n/a	n/a
17	TCF12	chr19:45247727-45253774	A549	lung:	n/a	chr19:45248399-45248407 chr19:45249956-45249966
18	RUNX3	chr19:45252943-45253471	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:45252259-45253459	U87	brain:	n/a	n/a
20	MAZ	chr19:45249597-45253664	IMR90	lung:	n/a	chr19:45252537-45252546 chr19:45250878-45250887 chr19:45252540-45252550
21	POLR2A	chr19:45252230-45253606	U87	brain:	n/a	n/a
22	POLR2A	chr19:45252561-45253654	PANC-1	pancreas:	n/a	n/a
23	STAT5A	chr19:45252740-45253133	GM12878	blood:	n/a	chr19:45253090-45253098
24	BCL3	chr19:45247680-45253680	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
25	POLR2A	chr19:45250394-45253526	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr19:45252410-45253639	GM12878	blood:	n/a	n/a
27	POLR2A	chr19:45252853-45253647	GM12878	blood:	n/a	n/a
28	RCOR1	chr19:45252361-45253668	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45164861..45166953-chr19:45250378..45253353,2	MCF-7	breast:
2	chr19:45150946..45153817-chr19:45251773..45254167,2	MCF-7	breast:
3	chr19:45251797..45254336-chr19:45349633..45353327,3	K562	blood:
4	chr19:45175686..45178014-chr19:45252899..45254725,2	MCF-7	breast:
5	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
6	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
7	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
8	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
9	chr19:45252053..45254233-chr19:45351379..45354120,2	MCF-7	breast:
10	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
11	chr19:45198197..45200350-chr19:45252403..45254162,3	K562	blood:
12	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000186567	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000187244	Chromatin interaction
ENSG00000073008	Chromatin interaction
ENSG00000252200	Chromatin interaction

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	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
4	esv3324918	chr19:45250737-45253285	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3447789	chr19:45251012-45253160	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45249800-45253200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:45250400-45253200	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr19:45250600-45253200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:45250600-45253200	Active TSS	Liver	Liver
6	chr19:45250600-45253200	Active TSS	Fetal Kidney	kidney
7	chr19:45250600-45253200	Active TSS	Left Ventricle	heart
8	chr19:45250600-45253200	Active TSS	Ovary	ovary
9	chr19:45250600-45253200	Active TSS	Right Atrium	heart
10	chr19:45250600-45253200	Active TSS	NHLF	lung
11	chr19:45250600-45253400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:45250600-45253400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr19:45250800-45253200	Active TSS	Brain Angular Gyrus	brain
14	chr19:45250800-45253200	Active TSS	Esophagus	oesophagus
15	chr19:45251000-45253200	Active TSS	Lung	lung
16	chr19:45251000-45253400	Active TSS	Small Intestine	intestine
17	chr19:45251200-45253200	Active TSS	Pancreas	Pancrea
18	chr19:45251600-45253200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:45251600-45253200	Active TSS	Brain Anterior Caudate	brain
20	chr19:45251600-45253200	Active TSS	Hela-S3	cervix
21	chr19:45251600-45253800	Active TSS	NHDF-Ad	bronchial
22	chr19:45251600-45254800	Active TSS	Brain Hippocampus Middle	brain
23	chr19:45252000-45253200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:45252000-45253200	Active TSS	Gastric	stomach
25	chr19:45252000-45254200	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr19:45252200-45253200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr19:45252200-45253200	Flanking Active TSS	Fetal Muscle Trunk	muscle
28	chr19:45252200-45253400	Bivalent Enhancer	Fetal Brain Male	brain
29	chr19:45252200-45253400	Active TSS	Stomach Mucosa	stomach
30	chr19:45252200-45255000	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:45252400-45253200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr19:45252400-45253200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:45252400-45253400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr19:45252400-45253400	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr19:45252400-45253400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr19:45252400-45253400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr19:45252400-45253600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:45252400-45253600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr19:45252400-45254000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr19:45252400-45254200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:45252600-45253200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:45252600-45253200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:45252600-45253200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:45252600-45253200	Flanking Active TSS	Fetal Lung	lung
45	chr19:45252600-45253200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
46	chr19:45252600-45253200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr19:45252600-45253200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:45252600-45253200	Flanking Active TSS	NH-A	brain
49	chr19:45252600-45253200	Flanking Active TSS	Osteobl	bone
50	chr19:45252600-45253400	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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