Variant report

Variant	rs572572796
Chromosome Location	chr19:45254396-45254397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45253987-45254896	A549	lung:	n/a	n/a
2	POLR2A	chr19:45254121-45254777	GM12878	blood:	n/a	n/a
3	MTA3	chr19:45253960-45254522	GM12878	blood:	n/a	n/a
4	WRNIP1	chr19:45253942-45254883	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:45254007-45254818	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr19:45253861-45254547	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:45254320-45254833	HepG2	liver:	n/a	n/a
8	TCF12	chr19:45254076-45254987	A549	lung:	n/a	n/a
9	BHLHE40	chr19:45254144-45254812	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:45254361-45254717	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:45253710-45255003	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:45254358-45254823	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:45254162-45254834	A549	lung:	n/a	n/a
14	POLR2A	chr19:45254013-45254820	PANC-1	pancreas:	n/a	n/a
15	BCL3	chr19:45253968-45254982	A549	lung:	n/a	n/a
16	POLR2A	chr19:45253836-45254929	U87	brain:	n/a	n/a
17	POLR2A	chr19:45254229-45254859	A549	lung:	n/a	n/a
18	POLR2A	chr19:45253948-45254974	PFSK-1	brain:	n/a	n/a
19	POLR2A	chr19:45253791-45254909	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr19:45253724-45254828	GM12878	blood:	n/a	n/a
21	MTA3	chr19:45254089-45254440	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:45254119-45254892	U87	brain:	n/a	n/a
23	POLR2A	chr19:45253863-45254865	Hela-S3	cervix:	n/a	n/a
24	MAX	chr19:45254215-45254652	GM12878	blood:	n/a	chr19:45254316-45254326
25	ELF1	chr19:45254212-45254648	A549	lung:	n/a	n/a
26	POLR2A	chr19:45254091-45254914	U87	brain:	n/a	n/a
27	POLR2A	chr19:45254056-45254757	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr19:45253836-45254892	U87	brain:	n/a	n/a
29	POLR2A	chr19:45254033-45254896	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:45254356-45254618	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:45254240-45254812	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45175686..45178014-chr19:45252899..45254725,2	MCF-7	breast:
2	chr19:45254251..45256746-chr19:45347772..45349596,2	MCF-7	breast:
3	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
4	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
5	chr18:19283987..19284908-chr19:45254346..45255169,2	Hela-S3	cervix:
6	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:

No data

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000187244	Chromatin interaction
ENSG00000252200	Chromatin interaction
ENSG00000158201	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000130202	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	nsv2506	chr19:45253263-45297811	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45251600-45254800	Active TSS	Brain Hippocampus Middle	brain
2	chr19:45252200-45255000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr19:45252800-45254400	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr19:45252800-45254800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
5	chr19:45252800-45256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:45253000-45254600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:45253000-45254800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:45253000-45255200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
9	chr19:45253000-45256000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr19:45253000-45256000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:45253000-45256200	Weak transcription	Brain Substantia Nigra	brain
12	chr19:45253000-45256600	Transcr. at gene 5' and 3'	A549	lung
13	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
15	chr19:45253000-45256800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
16	chr19:45253000-45257200	Weak transcription	Aorta	Aorta
17	chr19:45253200-45254600	Genic enhancers	Fetal Muscle Trunk	muscle
18	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Esophagus	oesophagus
21	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
22	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Placenta	Placenta
23	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Gastric	stomach
24	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Left Ventricle	heart
25	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
26	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Spleen	Spleen
27	chr19:45253200-45254800	Transcr. at gene 5' and 3'	Osteobl	bone
28	chr19:45253200-45255000	Transcr. at gene 5' and 3'	Pancreas	Pancrea
29	chr19:45253200-45255200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
30	chr19:45253200-45255200	Transcr. at gene 5' and 3'	NHLF	lung
31	chr19:45253200-45255800	Weak transcription	K562	blood
32	chr19:45253200-45256000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr19:45253200-45256000	Weak transcription	Brain Angular Gyrus	brain
34	chr19:45253200-45256000	Strong transcription	Fetal Stomach	stomach
35	chr19:45253200-45256200	Weak transcription	Fetal Kidney	kidney
36	chr19:45253200-45256600	Transcr. at gene 5' and 3'	Liver	Liver
37	chr19:45253400-45254400	Enhancers	Primary B cells from peripheral blood	blood
38	chr19:45253400-45254400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr19:45253400-45254400	Enhancers	HepG2	liver
40	chr19:45253400-45254600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
41	chr19:45253400-45254800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
42	chr19:45253400-45254800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:45253400-45254800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
44	chr19:45253400-45255000	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
45	chr19:45253400-45255800	Enhancers	Primary T cells from cord blood	blood
46	chr19:45253400-45255800	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr19:45253400-45255800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:45253400-45255800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr19:45253400-45255800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr19:45253400-45255800	Weak transcription	Fetal Lung	lung

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