Variant report

Variant	esv1809890
Chromosome Location	chr14:63061430-63072442
allele	n/a
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	chr14:63069487-63069812	A549	lung:	n/a	chr14:63069630-63069641
2	CEBPB	chr14:63069538-63069737	Hela-S3	cervix:	n/a	chr14:63069630-63069641
3	CEBPB	chr14:63069524-63069778	HepG2	liver:	n/a	chr14:63069630-63069641
4	CEBPB	chr14:63069444-63069797	IMR90	lung:	n/a	chr14:63069630-63069641
5	CEBPB	chr14:63069520-63069798	K562	blood:	n/a	chr14:63069630-63069641
6	CTCF	chr14:63072379-63072386	LNCaP	prostate:	n/a	n/a
7	E2F4	chr14:63064911-63065360	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA2	chr14:63071301-63071625	SH-SY5Y	brain:	n/a	chr14:63071569-63071582 chr14:63071510-63071517
9	POLR2A	chr14:63072410-63072431	A549	lung:	n/a	n/a
10	POLR2A	chr14:63070181-63070265	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:63066420-63067024	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr14:63069436-63069628	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr14:63061767-63062179	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr14:63067659-63067741	MCF10A-Er-Src	breast:	n/a	n/a
15	SETDB1	chr14:63063572-63064442	U2OS	brain:	n/a	n/a
16	STAT3	chr14:63067920-63068082	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr14:63061714-63061914	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNH5-5	chr14:63070831-63072435	NONHSAT037294

Variant related genes	Relation type
ENSG00000258877	TF binding region

Extended variants
information (count: 196 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182845268	chr14:63061458-63061459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35033218	chr14:63061463-63061464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531392697	chr14:63061557-63061558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534722378	chr14:63061564-63061565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554230324	chr14:63061575-63061576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2355169	chr14:63061585-63061586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1826112	chr14:63061592-63061593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs5809157	chr14:63061594-63061595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398025368	chr14:63061601-63061602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374862957	chr14:63061629-63061630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543094524	chr14:63061630-63061631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553463697	chr14:63061653-63061654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557207728	chr14:63061664-63061665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577150870	chr14:63061681-63061682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545951988	chr14:63061682-63061683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369351294	chr14:63061697-63061698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546438327	chr14:63061714-63061715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146498678	chr14:63061717-63061718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4124314	chr14:63061741-63061742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs191855610	chr14:63061753-63061754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112575896	chr14:63061788-63061789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542318573	chr14:63061793-63061794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562087858	chr14:63061867-63061868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4088855	chr14:63061869-63061870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149504949	chr14:63061870-63061871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545618572	chr14:63061882-63061883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182203483	chr14:63061913-63061914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10151267	chr14:63061920-63061921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535151058	chr14:63061940-63061941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377219215	chr14:63061981-63061982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1686779	chr14:63061996-63061997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1686778	chr14:63062025-63062026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532472215	chr14:63062031-63062032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74058606	chr14:63062035-63062036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs565879617	chr14:63062046-63062047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186762056	chr14:63062063-63062064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555061576	chr14:63062090-63062091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56052726	chr14:63062100-63062101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs193072070	chr14:63062113-63062114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1686777	chr14:63062123-63062124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568089137	chr14:63062211-63062212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112520758	chr14:63062214-63062215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536632234	chr14:63062223-63062224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556552612	chr14:63062224-63062225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74752898	chr14:63062244-63062245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539746803	chr14:63062267-63062268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1686776	chr14:63062295-63062296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139965662	chr14:63062301-63062302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58701850	chr14:63062377-63062378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs57485031	chr14:63062395-63062396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63060200-63063400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63063400-63063600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:63063600-63064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:63070800-63071400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:63070800-63071600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:63071000-63072400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr14:63071000-63072400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:63071400-63074600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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