Variant report

Variant	esv3423078
Chromosome Location	chr19:20584779-20588399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:20585240-20585286	Medullo	brain:	n/a	n/a
2	GABPA	chr19:20586322-20586438	GM12878	blood:	n/a	n/a
3	MYBL2	chr19:20587363-20587738	HepG2	liver:	n/a	n/a
4	NR2F2	chr19:20587229-20587438	K562	blood:	n/a	n/a
5	NR2F2	chr19:20587112-20587596	K562	blood:	n/a	n/a
6	POLR2A	chr19:20586326-20586432	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20585212-20585262	ProgFib	skin:	n/a
2	chr19:20585212-20585262	ProgFib	skin:	n/a
3	chr19:20585212-20585262	HCPEpiC	choroid plexus:	n/a
4	chr19:20585206-20585256	MCF10A-Er-Src	breast:	n/a
5	chr19:20585206-20585256	HCT-116	colon:	n/a
6	chr19:20585206-20585256	HMEC	breast:	n/a
7	chr19:20585212-20585262	Hepatocyte	liver:	n/a
8	chr19:20585206-20585256	BE2_C	brain:	n/a
9	chr19:20585206-20585256	HCF	heart:	n/a
10	chr19:20585212-20585262	LNCaP	prostate:	n/a
11	chr19:20585206-20585256	A549	lung:	n/a
12	chr19:20585212-20585262	K562	blood:	n/a
13	chr19:20585206-20585256	HCPEpiC	choroid plexus:	n/a
14	chr19:20585212-20585262	PFSK-1	brain:	n/a
15	chr19:20585206-20585256	NHDF-neo	bronchial:	n/a
16	chr19:20585206-20585256	NH-A	brain:	n/a
17	chr19:20585206-20585256	H1-hESC	embryonic stem cell:	embryo
18	chr19:20585206-20585256	NHBE	bronchial:	n/a
19	chr19:20585212-20585262	HCT-116	colon:	n/a
20	chr19:20585212-20585262	BE2_C	brain:	n/a
21	chr19:20585212-20585262	Jurkat	blood:	n/a
22	chr19:20585206-20585256	GM19239	blood:	n/a
23	chr19:20585206-20585256	PANC-1	pancreas:	n/a
24	chr19:20585212-20585262	HNPCEpiC	eye:	n/a
25	chr19:20585206-20585256	HPAEpiC	pulmonary alveolar:	n/a
26	chr19:20585212-20585262	MCF-7	breast:	n/a
27	chr19:20585212-20585262	HCF	heart:	n/a
28	chr19:20585212-20585262	ECC-1	luminal epithelium:	n/a
29	chr19:20585212-20585262	A549	lung:	n/a
30	chr19:20585212-20585262	U87	brain:	n/a
31	chr19:20585206-20585256	AG09319	gingival:	n/a
32	chr19:20585212-20585262	HUVEC	blood vessel:	n/a
33	chr19:20585212-20585262	HCM	heart:	n/a
34	chr19:20585206-20585256	Hepatocyte	liver:	n/a
35	chr19:20585212-20585262	CMK	blood:	n/a
36	chr19:20585212-20585262	HIPEpiC	eye:	n/a
37	chr19:20585206-20585256	U87	brain:	n/a
38	chr19:20585212-20585262	PANC-1	pancreas:	n/a
39	chr19:20585206-20585256	HCM	heart:	n/a
40	chr19:20585206-20585256	HIPEpiC	eye:	n/a
41	chr19:20585212-20585262	HEK293	kidney:	embryo
42	chr19:20585206-20585256	SKMC	muscle:	n/a
43	chr19:20585206-20585256	HRE	kidney:	n/a
44	chr19:20585212-20585262	BJ	skin:	n/a
45	chr19:20585212-20585262	AG09309	skin:	n/a
46	chr19:20585206-20585256	AoSMC	blood vessel:	n/a
47	chr19:20585206-20585256	HL-60	blood:	n/a
48	chr19:20585206-20585256	T-47D	breast:	n/a
49	chr19:20585212-20585262	AG04450	lung:	fetal
50	chr19:20585212-20585262	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF486-9	chr19:20588238-20588951	NONHSAT063655

No data

Variant related genes	Relation type
ENSG00000269372	TF binding region
ENSG00000269372	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76538538	chr19:20585207-20585208	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs79543753	chr19:20585249-20585250	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs28441322	chr19:20587429-20587430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56065323	chr19:20587566-20587567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28532776	chr19:20587655-20587656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28565387	chr19:20587729-20587730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58713218	chr19:20587904-20587905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28787345	chr19:20587962-20587963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587714240	chr19:20588001-20588002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28417609	chr19:20588009-20588010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587612612	chr19:20588028-20588029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2545945	chr19:20588206-20588207	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
13	rs200656463	chr19:20588289-20588290	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20841430	CNVD
small cell lung cancer	20016488	CNVD
Autism	19492091	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20587200-20595200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:20587200-20595400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:20588200-20595200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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