Variant report

Variant	nsv461547
Chromosome Location	chr4:69684121-69706273
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	chr4:69683102-69684193	HepG2	liver:	n/a	chr4:69683103-69683119
2	CEBPB	chr4:69684015-69684280	IMR90	lung:	n/a	chr4:69684140-69684151 chr4:69684141-69684152
3	CEBPB	chr4:69684063-69684187	K562	blood:	n/a	chr4:69684140-69684151 chr4:69684141-69684152
4	CEBPB	chr4:69685580-69685738	A549	lung:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
5	CEBPB	chr4:69683737-69684291	HepG2	liver:	n/a	chr4:69684140-69684151 chr4:69684141-69684152
6	CEBPB	chr4:69685477-69685793	HepG2	liver:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
7	CEBPB	chr4:69684002-69684205	A549	lung:	n/a	chr4:69684140-69684151 chr4:69684141-69684152
8	CEBPB	chr4:69685492-69685778	IMR90	lung:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
9	CEBPB	chr4:69685586-69685776	H1-hESC	embryonic stem cell:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
10	CEBPB	chr4:69685485-69685717	K562	blood:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
11	CTCF	chr4:69692957-69692997	Kidney_OC	kidney:	n/a	n/a
12	EP300	chr4:69683627-69684145	HepG2	liver:	n/a	chr4:69683716-69683730 chr4:69683632-69683642
13	EP300	chr4:69705426-69705448	K562	blood:	n/a	n/a
14	FOSL2	chr4:69687920-69688219	HepG2	liver:	n/a	n/a
15	FOSL2	chr4:69693621-69693993	A549	lung:	n/a	n/a
16	FOSL2	chr4:69687855-69688221	HepG2	liver:	n/a	n/a
17	FOXA1	chr4:69687653-69688234	HepG2	liver:	n/a	n/a
18	FOXA1	chr4:69683068-69684396	HepG2	liver:	n/a	n/a
19	FOXA1	chr4:69682696-69684401	HepG2	liver:	n/a	n/a
20	FOXA2	chr4:69683609-69684253	HepG2	liver:	n/a	n/a
21	FOXA2	chr4:69682814-69684374	HepG2	liver:	n/a	n/a
22	HEY1	chr4:69685225-69685452	HepG2	liver:	n/a	n/a
23	HEY1	chr4:69687874-69688263	HepG2	liver:	n/a	n/a
24	HEY1	chr4:69684283-69684648	HepG2	liver:	n/a	n/a
25	HEY1	chr4:69681378-69684220	HepG2	liver:	n/a	n/a
26	HEY1	chr4:69689664-69689929	HepG2	liver:	n/a	chr4:69689751-69689760
27	HEY1	chr4:69685067-69685527	HepG2	liver:	n/a	n/a
28	JUN	chr4:69683763-69684234	HepG2	liver:	n/a	chr4:69683978-69683990
29	JUND	chr4:69686983-69687221	HepG2	liver:	n/a	n/a
30	JUND	chr4:69687946-69688142	HepG2	liver:	n/a	n/a
31	JUND	chr4:69692965-69693189	HepG2	liver:	n/a	n/a
32	MAFF	chr4:69699167-69699269	HepG2	liver:	n/a	n/a
33	MAFK	chr4:69699142-69699266	HepG2	liver:	n/a	n/a
34	MAFK	chr4:69702353-69702518	HepG2	liver:	n/a	chr4:69702408-69702419 chr4:69702409-69702420 chr4:69702409-69702420 chr4:69702408-69702419
35	MAX	chr4:69705870-69705893	GM12878	blood:	n/a	n/a
36	MBD4	chr4:69681244-69684224	HepG2	liver:	n/a	n/a
37	MYBL2	chr4:69681148-69684482	HepG2	liver:	n/a	n/a
38	MYBL2	chr4:69683552-69684248	HepG2	liver:	n/a	n/a
39	MYC	chr4:69705637-69705731	MCF10A-Er-Src	breast:	n/a	n/a
40	NFIC	chr4:69681113-69684249	HepG2	liver:	n/a	n/a
41	POLR2A	chr4:69685593-69685981	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:69681458-69684249	HepG2	liver:	n/a	n/a
43	POLR2A	chr4:69696799-69697192	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:69698724-69698902	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:69683619-69684176	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:69704663-69704723	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr4:69701449-69701521	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:69705684-69705829	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr4:69700545-69701098	HepG2	liver:	n/a	n/a
50	POLR2A	chr4:69698617-69698976	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000251424	TF binding region

Extended variants
information (count: 998 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs844342	chr4:69684121-69684122	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs9917967	chr4:69684218-69684219	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567929987	chr4:69684262-69684263	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs536275997	chr4:69684285-69684286	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556515060	chr4:69684335-69684336	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs5859144	chr4:69684339-69684340	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370568942	chr4:69684345-69684346	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10428371	chr4:69684353-69684354	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570322598	chr4:69684354-69684355	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545472773	chr4:69684367-69684368	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539734966	chr4:69684408-69684409	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549840215	chr4:69684457-69684458	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189198821	chr4:69684475-69684476	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561054978	chr4:69684478-69684479	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529998994	chr4:69684494-69684495	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs36003814	chr4:69684523-69684524	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569910961	chr4:69684530-69684531	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs191396359	chr4:69684545-69684546	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532079367	chr4:69684547-69684548	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs835311	chr4:69684548-69684549	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs835312	chr4:69684574-69684575	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554966624	chr4:69684575-69684576	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541821552	chr4:69684585-69684586	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527912975	chr4:69684613-69684614	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141118593	chr4:69684653-69684654	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs573840164	chr4:69684670-69684671	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143857470	chr4:69684685-69684686	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs536912775	chr4:69684696-69684697	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114019457	chr4:69684722-69684723	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182479122	chr4:69684723-69684724	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113678661	chr4:69684745-69684746	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539152083	chr4:69684772-69684773	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559130360	chr4:69684775-69684776	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs572550228	chr4:69684785-69684786	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs534562988	chr4:69684804-69684805	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553199772	chr4:69684805-69684806	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577949275	chr4:69684815-69684816	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545230858	chr4:69684827-69684828	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543653089	chr4:69684853-69684854	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563325350	chr4:69684867-69684868	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57059869	chr4:69684886-69684887	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146848056	chr4:69684916-69684917	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112487756	chr4:69684923-69684924	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374916645	chr4:69684974-69684975	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145780962	chr4:69685013-69685014	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372018074	chr4:69685045-69685046	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs835313	chr4:69685048-69685049	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558197074	chr4:69685069-69685070	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547686499	chr4:69685082-69685083	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577984041	chr4:69685091-69685092	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69681800-69684600	Active TSS	Liver	Liver
2	chr4:69682800-69684200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:69683400-69684800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:69683600-69684200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:69683600-69684200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:69684000-69684200	Flanking Active TSS	HepG2	liver
7	chr4:69684200-69684600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:69684200-69686000	Enhancers	HepG2	liver
9	chr4:69684600-69686000	Flanking Active TSS	Liver	Liver
10	chr4:69686000-69686600	Enhancers	Liver	Liver
11	chr4:69686000-69688000	Weak transcription	HepG2	liver
12	chr4:69686600-69686800	Flanking Active TSS	Liver	Liver
13	chr4:69686800-69687000	Enhancers	Liver	Liver
14	chr4:69687000-69687200	Flanking Active TSS	Liver	Liver
15	chr4:69687200-69688600	Weak transcription	Liver	Liver
16	chr4:69688000-69690200	Enhancers	HepG2	liver
17	chr4:69688600-69689200	Genic enhancers	Liver	Liver
18	chr4:69689200-69693800	Weak transcription	Liver	Liver
19	chr4:69689800-69690000	Enhancers	Pancreas	Pancrea
20	chr4:69690200-69690600	Weak transcription	HepG2	liver
21	chr4:69690600-69690800	Enhancers	HepG2	liver
22	chr4:69690800-69693800	Weak transcription	HepG2	liver
23	chr4:69693800-69694800	Strong transcription	Liver	Liver
24	chr4:69693800-69694800	Strong transcription	HepG2	liver
25	chr4:69694800-69695600	Weak transcription	Liver	Liver
26	chr4:69694800-69702400	Weak transcription	HepG2	liver
27	chr4:69695600-69696000	Strong transcription	Liver	Liver
28	chr4:69696000-69696800	Weak transcription	Liver	Liver
29	chr4:69696800-69697600	Genic enhancers	Liver	Liver
30	chr4:69697600-69699400	Strong transcription	Liver	Liver
31	chr4:69699400-69701800	Weak transcription	Liver	Liver

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