Variant report

Variant	esv1142558
Chromosome Location	chr19:45074214-45074216
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:107)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:45074209-45074355	GM19239	blood:	n/a	n/a
2	CTCF	chr19:45074200-45074350	HCM	heart:	n/a	n/a
3	CTCF	chr19:45074163-45074429	GM12878	blood:	n/a	n/a
4	CTCF	chr19:45074078-45074526	K562	blood:	n/a	n/a
5	CTCF	chr19:45074195-45074364	GM20000	blood:	n/a	n/a
6	CTCF	chr19:45074180-45074330	HCT-116	colon:	n/a	n/a
7	CTCF	chr19:45074149-45074386	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr19:45074200-45074350	GM12868	blood:	n/a	n/a
9	CTCF	chr19:45074200-45074350	MCF-7	breast:	n/a	n/a
10	CTCF	chr19:45074200-45074350	GM12878	blood:	n/a	n/a
11	CTCF	chr19:45074111-45074411	A549	lung:	n/a	n/a
12	CTCF	chr19:45074153-45074401	MCF-7	breast:	n/a	n/a
13	CTCF	chr19:45073959-45074610	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr19:45074016-45074574	A549	lung:	n/a	n/a
15	CTCF	chr19:45074200-45074350	NHDF-neo	bronchial:	n/a	n/a
16	CTCF	chr19:45074186-45074363	GM12892	blood:	n/a	n/a
17	CTCF	chr19:45074166-45074414	GM13977	blood:	n/a	n/a
18	CTCF	chr19:45074083-45074534	HepG2	liver:	n/a	n/a
19	CTCF	chr19:45074127-45074488	K562	blood:	n/a	n/a
20	CTCF	chr19:45074186-45074439	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr19:45074143-45074407	ProgFib	skin:	n/a	n/a
22	CTCF	chr19:45074177-45074413	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr19:45074207-45074388	T-47D	breast:	n/a	n/a
24	CTCF	chr19:45074200-45074350	AG09309	skin:	n/a	n/a
25	CTCF	chr19:45074193-45074412	GM10248	blood:	n/a	n/a
26	CTCF	chr19:45074188-45074386	A549	lung:	n/a	n/a
27	CTCF	chr19:45073694-45075713	A549	lung:	n/a	chr19:45075149-45075162
28	CTCF	chr19:45074160-45074310	HVMF	connective:	n/a	n/a
29	CTCF	chr19:45074140-45074290	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr19:45074174-45074368	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr19:45074164-45074378	Fibrobl	skin:	n/a	n/a
32	CTCF	chr19:45074203-45074362	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:45074163-45074438	K562	blood:	n/a	n/a
34	CTCF	chr19:45074180-45074330	GM12875	blood:	n/a	n/a
35	CTCF	chr19:45074190-45074428	HepG2	liver:	n/a	n/a
36	CTCF	chr19:45074157-45074443	Gliobla	brain:	n/a	n/a
37	CTCF	chr19:45074180-45074330	GM12874	blood:	n/a	n/a
38	CTCF	chr19:45074166-45074451	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr19:45074141-45074439	T-47D	breast:	n/a	n/a
40	CTCF	chr19:45074183-45074433	A549	lung:	n/a	n/a
41	CTCF	chr19:45074212-45074356	MCF-7	breast:	n/a	n/a
42	CTCF	chr19:45074111-45074505	K562	blood:	n/a	n/a
43	CTCF	chr19:45074161-45074461	Medullo	brain:	n/a	n/a
44	CTCF	chr19:45074188-45074384	GM19238	blood:	n/a	n/a
45	CTCF	chr19:45074200-45074350	BJ	skin:	n/a	n/a
46	CTCF	chr19:45074165-45074506	MCF-7	breast:	n/a	n/a
47	CTCF	chr19:45074105-45074494	IMR90	lung:	n/a	n/a
48	CTCF	chr19:45074171-45074404	NHEK	skin:	n/a	n/a
49	CTCF	chr19:45074189-45074390	GM19240	blood:	n/a	n/a
50	CTCF	chr19:45074178-45074426	GM10266	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45074025..45075864-chr19:45246101..45248322,2	MCF-7	breast:
2	chr19:45016284..45016826-chr19:45073849..45074372,2	MCF-7	breast:
3	chr19:45073833..45074821-chr19:45348052..45348614,3	K562	blood:
4	chr19:45074128..45076823-chr19:45084175..45086201,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224366	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 66 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386389083	chr19:45074215-45074216	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45070000-45074400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr19:45070400-45080400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:45070600-45075200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr19:45073800-45076400	Enhancers	K562	blood
5	chr19:45074200-45074400	Active TSS	Liver	Liver
6	chr19:45074200-45075600	Enhancers	A549	lung
7	chr19:45074200-45076000	Flanking Active TSS	HepG2	liver

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