Variant report

Variant	nsv974442
Chromosome Location	chr14:64024425-64046914
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	ARID3A	chr14:64040422-64040518	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:64041842-64042094	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:64032500-64032835	A549	lung:	n/a	chr14:64032650-64032661
4	CEBPB	chr14:64029146-64029361	MCF-7	breast:	n/a	chr14:64029228-64029241 chr14:64029242-64029255
5	CEBPB	chr14:64032267-64032731	Hela-S3	cervix:	n/a	chr14:64032650-64032661
6	CEBPB	chr14:64030321-64030647	MCF-7	breast:	n/a	n/a
7	CEBPB	chr14:64041090-64041091	A549	lung:	n/a	n/a
8	CEBPB	chr14:64034277-64034332	HepG2	liver:	n/a	chr14:64034290-64034301
9	CEBPB	chr14:64041044-64041104	IMR90	lung:	n/a	chr14:64041069-64041080
10	CEBPB	chr14:64034255-64034361	IMR90	lung:	n/a	chr14:64034290-64034301
11	CEBPB	chr14:64032550-64032684	HepG2	liver:	n/a	chr14:64032650-64032661
12	CEBPB	chr14:64041855-64041951	IMR90	lung:	n/a	n/a
13	CEBPB	chr14:64032487-64032839	IMR90	lung:	n/a	chr14:64032650-64032661
14	CEBPB	chr14:64032560-64032776	H1-hESC	embryonic stem cell:	n/a	chr14:64032650-64032661
15	CEBPB	chr14:64041854-64042096	A549	lung:	n/a	n/a
16	CEBPB	chr14:64032496-64032964	MCF-7	breast:	n/a	chr14:64032650-64032661
17	CEBPB	chr14:64032501-64032800	K562	blood:	n/a	chr14:64032650-64032661
18	CEBPB	chr14:64029109-64029416	Hela-S3	cervix:	n/a	chr14:64029228-64029241 chr14:64029242-64029255
19	CEBPB	chr14:64032256-64032858	HepG2	liver:	n/a	chr14:64032650-64032661
20	CEBPB	chr14:64040923-64041096	HepG2	liver:	n/a	chr14:64041069-64041080
21	E2F4	chr14:64029897-64030047	MCF10A-Er-Src	breast:	n/a	n/a
22	EP300	chr14:64029146-64029498	SK-N-SH_RA	brain:	n/a	chr14:64029229-64029243 chr14:64029367-64029376 chr14:64029368-64029377
23	EP300	chr14:64029165-64029578	SK-N-SH_RA	brain:	n/a	chr14:64029546-64029560 chr14:64029229-64029243 chr14:64029367-64029376 chr14:64029368-64029377 chr14:64029540-64029554
24	FOS	chr14:64040333-64040641	MCF10A-Er-Src	breast:	n/a	chr14:64040480-64040491 chr14:64040483-64040494
25	FOS	chr14:64032316-64032321	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr14:64040333-64040534	MCF10A-Er-Src	breast:	n/a	chr14:64040480-64040491 chr14:64040483-64040494
27	FOS	chr14:64031177-64031304	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr14:64030435-64030691	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr14:64031225-64031265	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr14:64030383-64030711	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr14:64029228-64029520	MCF10A-Er-Src	breast:	n/a	chr14:64029366-64029378 chr14:64029367-64029376 chr14:64029369-64029376 chr14:64029368-64029377 chr14:64029367-64029377 chr14:64029368-64029376
32	FOS	chr14:64029162-64029524	MCF10A-Er-Src	breast:	n/a	chr14:64029366-64029378 chr14:64029367-64029376 chr14:64029369-64029376 chr14:64029368-64029377 chr14:64029367-64029377 chr14:64029368-64029376
33	FOS	chr14:64030371-64030714	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr14:64045045-64045309	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr14:64031211-64031268	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr14:64030364-64030715	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr14:64029232-64029490	MCF10A-Er-Src	breast:	n/a	chr14:64029366-64029378 chr14:64029367-64029376 chr14:64029369-64029376 chr14:64029368-64029377 chr14:64029367-64029377 chr14:64029368-64029376
38	FOS	chr14:64029149-64029565	MCF10A-Er-Src	breast:	n/a	chr14:64029366-64029378 chr14:64029367-64029376 chr14:64029369-64029376 chr14:64029368-64029377 chr14:64029367-64029377 chr14:64029368-64029376
39	FOS	chr14:64040348-64040640	MCF10A-Er-Src	breast:	n/a	chr14:64040480-64040491 chr14:64040483-64040494
40	FOS	chr14:64045098-64045282	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr14:64040269-64040696	HUVEC	blood vessel:	n/a	chr14:64040480-64040491 chr14:64040483-64040494
42	FOS	chr14:64045055-64045234	MCF10A-Er-Src	breast:	n/a	n/a
43	FOSL2	chr14:64030226-64030688	MCF-7	breast:	n/a	n/a
44	FOSL2	chr14:64040329-64040565	HepG2	liver:	n/a	chr14:64040483-64040494
45	FOSL2	chr14:64030180-64030764	MCF-7	breast:	n/a	n/a
46	FOSL2	chr14:64040339-64040582	HepG2	liver:	n/a	chr14:64040483-64040494
47	FOSL2	chr14:64030317-64030629	A549	lung:	n/a	n/a
48	FOXA1	chr14:64040350-64040622	HepG2	liver:	n/a	n/a
49	FOXA1	chr14:64032608-64032927	HepG2	liver:	n/a	n/a
50	FOXA2	chr14:64032625-64032819	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:62606585..62609127-chr14:64044498..64046630,2	MCF-7	breast:
2	chr14:64008630..64011700-chr14:64030153..64034050,5	MCF-7	breast:
3	chr14:64009657..64011362-chr14:64029023..64031031,2	MCF-7	breast:
4	chr14:64028657..64030519-chr14:64106654..64108716,2	MCF-7	breast:
5	chr14:64020827..64024585-chr14:64024832..64027804,4	MCF-7	breast:
6	chr14:64020827..64024585-chr14:64024832..64027804,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205767	TF binding region
ENSG00000133316	chromatin interactions
ENSG00000140006	chromatin interactions
ENSG00000154001	chromatin interactions
ENSG00000261242	chromatin interactions

Extended variants
information (count: 651 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:651 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536349938	chr14:64027025-64027026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556296199	chr14:64027026-64027027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143609738	chr14:64027027-64027028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538853810	chr14:64027053-64027054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558865179	chr14:64027109-64027110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572226066	chr14:64027115-64027116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111553936	chr14:64027132-64027133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560278810	chr14:64027191-64027192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574027856	chr14:64027241-64027242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542668168	chr14:64027260-64027261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148068867	chr14:64027265-64027266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34018134	chr14:64027305-64027306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190488024	chr14:64027310-64027311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141722974	chr14:64027313-64027314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117292962	chr14:64027406-64027407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183516757	chr14:64027468-64027469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565848010	chr14:64027496-64027497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548115216	chr14:64027507-64027508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567103735	chr14:64027522-64027523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs117663687	chr14:64027558-64027559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549867723	chr14:64027598-64027599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534950656	chr14:64027623-64027624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370690836	chr14:64027708-64027709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202246000	chr14:64027723-64027724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538767726	chr14:64027747-64027748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558062266	chr14:64027758-64027759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146013700	chr14:64027765-64027766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188163821	chr14:64027772-64027773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554854917	chr14:64027804-64027805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192646932	chr14:64027823-64027824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185035516	chr14:64027825-64027826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576110622	chr14:64027838-64027839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545136518	chr14:64027840-64027841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138582688	chr14:64027864-64027865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535128416	chr14:64027869-64027870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545733702	chr14:64027886-64027887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565333148	chr14:64027933-64027934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369040253	chr14:64027944-64027945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146168793	chr14:64027964-64027965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541321749	chr14:64027986-64027987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369773114	chr14:64027995-64027996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373688990	chr14:64028001-64028002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7151460	chr14:64028007-64028008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186635346	chr14:64028008-64028009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114720309	chr14:64028029-64028030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541635271	chr14:64028069-64028070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569704441	chr14:64028185-64028186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191287764	chr14:64028188-64028189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552299246	chr14:64028189-64028190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561790023	chr14:64028193-64028194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64027000-64027600	Enhancers	Placenta	Placenta
2	chr14:64027600-64030200	Weak transcription	Placenta	Placenta
3	chr14:64029000-64029800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:64029200-64029400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr14:64029200-64032400	Enhancers	Hela-S3	cervix
6	chr14:64029400-64031600	Enhancers	HMEC	breast
7	chr14:64029800-64030000	Enhancers	A549	lung
8	chr14:64029800-64031400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:64030000-64031000	Weak transcription	A549	lung
10	chr14:64030000-64031200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:64030000-64031200	Enhancers	NHEK	skin
12	chr14:64030000-64031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:64030200-64030400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:64030200-64031400	Enhancers	HepG2	liver
15	chr14:64030200-64031600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:64030200-64034800	Enhancers	Placenta	Placenta
17	chr14:64030400-64031200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:64030400-64031200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:64030400-64031400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:64030600-64031400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr14:64030800-64031400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:64030800-64032400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:64031000-64031200	Enhancers	Stomach Mucosa	stomach
24	chr14:64031000-64031400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:64031000-64031400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:64031000-64031400	Enhancers	Adipose Nuclei	Adipose
27	chr14:64031000-64031400	Enhancers	A549	lung
28	chr14:64031200-64031400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:64031200-64031400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:64031400-64032200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:64031400-64032400	Weak transcription	HepG2	liver
32	chr14:64031600-64032000	Weak transcription	HMEC	breast
33	chr14:64032200-64032400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:64032200-64032400	Enhancers	HMEC	breast
35	chr14:64032600-64032800	Enhancers	HepG2	liver
36	chr14:64039800-64040800	Enhancers	HUVEC	blood vessel
37	chr14:64040000-64040400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:64040000-64040600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:64040200-64040400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:64040200-64040400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr14:64040200-64040600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr14:64040200-64040600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:64040200-64040600	Enhancers	NHEK	skin
44	chr14:64040600-64045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:64040600-64045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:64040600-64045000	Weak transcription	NHEK	skin
47	chr14:64045000-64045400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr14:64045000-64045400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr14:64045000-64045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:64045000-64045600	Enhancers	NHEK	skin

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