Variant report

Variant	nsv1007447
Chromosome Location	chr4:69685048-69723767
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	CBX3	chr4:69710563-69710928	K562	blood:	n/a	n/a
2	CEBPB	chr4:69685580-69685738	A549	lung:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
3	CEBPB	chr4:69685477-69685793	HepG2	liver:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
4	CEBPB	chr4:69712445-69712703	HepG2	liver:	n/a	chr4:69712549-69712560
5	CEBPB	chr4:69685492-69685778	IMR90	lung:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
6	CEBPB	chr4:69685485-69685717	K562	blood:	n/a	chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685612-69685625 chr4:69685613-69685624 chr4:69685612-69685623
7	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
8	CTCF	chr4:69713220-69713370	GM12872	blood:	n/a	n/a
9	CTCF	chr4:69692957-69692997	Kidney_OC	kidney:	n/a	n/a
10	E2F4	chr4:69722556-69722747	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr4:69705426-69705448	K562	blood:	n/a	n/a
12	EP300	chr4:69717200-69717202	K562	blood:	n/a	n/a
13	FOSL2	chr4:69687855-69688221	HepG2	liver:	n/a	n/a
14	FOSL2	chr4:69693621-69693993	A549	lung:	n/a	n/a
15	FOSL2	chr4:69687920-69688219	HepG2	liver:	n/a	n/a
16	FOXA1	chr4:69687653-69688234	HepG2	liver:	n/a	n/a
17	FOXA2	chr4:69720793-69721078	HepG2	liver:	n/a	n/a
18	HEY1	chr4:69685225-69685452	HepG2	liver:	n/a	n/a
19	HEY1	chr4:69689664-69689929	HepG2	liver:	n/a	chr4:69689751-69689760
20	HEY1	chr4:69687874-69688263	HepG2	liver:	n/a	n/a
21	HEY1	chr4:69685067-69685527	HepG2	liver:	n/a	n/a
22	IRF3	chr4:69714265-69714279	GM12878	blood:	n/a	n/a
23	JUND	chr4:69687946-69688142	HepG2	liver:	n/a	n/a
24	JUND	chr4:69686983-69687221	HepG2	liver:	n/a	n/a
25	JUND	chr4:69692965-69693189	HepG2	liver:	n/a	n/a
26	KAP1	chr4:69708270-69708645	HEK293	kidney:	n/a	n/a
27	KAP1	chr4:69710173-69710979	K562	blood:	n/a	n/a
28	MAFF	chr4:69706462-69706620	HepG2	liver:	n/a	chr4:69706555-69706573
29	MAFF	chr4:69716047-69716346	HepG2	liver:	n/a	chr4:69716195-69716213
30	MAFF	chr4:69716038-69716345	K562	blood:	n/a	chr4:69716195-69716213
31	MAFF	chr4:69699167-69699269	HepG2	liver:	n/a	n/a
32	MAFK	chr4:69721421-69721487	HepG2	liver:	n/a	n/a
33	MAFK	chr4:69706509-69706598	IMR90	lung:	n/a	n/a
34	MAFK	chr4:69716034-69716379	IMR90	lung:	n/a	chr4:69716197-69716212
35	MAFK	chr4:69716034-69716373	HepG2	liver:	n/a	chr4:69716197-69716212
36	MAFK	chr4:69716109-69716310	K562	blood:	n/a	chr4:69716197-69716212
37	MAFK	chr4:69716028-69716568	HepG2	liver:	n/a	chr4:69716197-69716212
38	MAFK	chr4:69699142-69699266	HepG2	liver:	n/a	n/a
39	MAFK	chr4:69706409-69706688	HepG2	liver:	n/a	n/a
40	MAFK	chr4:69708940-69709017	HepG2	liver:	n/a	n/a
41	MAFK	chr4:69708910-69709068	HepG2	liver:	n/a	chr4:69709009-69709024
42	MAFK	chr4:69706417-69706627	HepG2	liver:	n/a	n/a
43	MAFK	chr4:69702353-69702518	HepG2	liver:	n/a	chr4:69702408-69702419 chr4:69702409-69702420 chr4:69702409-69702420 chr4:69702408-69702419
44	MAFK	chr4:69706523-69706605	Hela-S3	cervix:	n/a	n/a
45	MAX	chr4:69705870-69705893	GM12878	blood:	n/a	n/a
46	MXI1	chr4:69714500-69714509	K562	blood:	n/a	n/a
47	MYC	chr4:69705637-69705731	MCF10A-Er-Src	breast:	n/a	n/a
48	NFYB	chr4:69708626-69708946	K562	blood:	n/a	n/a
49	POLR2A	chr4:69701449-69701521	HepG2	liver:	n/a	n/a
50	POLR2A	chr4:69696251-69696256	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000251424	TF binding region

Extended variants
information (count: 1322 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1322 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs835313	chr4:69685048-69685049	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558197074	chr4:69685069-69685070	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547686499	chr4:69685082-69685083	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577984041	chr4:69685091-69685092	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186994568	chr4:69685092-69685093	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191823913	chr4:69685105-69685106	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185156468	chr4:69685106-69685107	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114135681	chr4:69685114-69685115	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547313918	chr4:69685129-69685130	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72636565	chr4:69685171-69685172	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs200250205	chr4:69685226-69685227	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535076602	chr4:69685227-69685228	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs59305050	chr4:69685229-69685230	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200892012	chr4:69685230-69685231	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116429800	chr4:69685243-69685244	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574545036	chr4:69685279-69685280	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375532867	chr4:69685300-69685301	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188470975	chr4:69685320-69685321	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536961198	chr4:69685375-69685376	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556870137	chr4:69685376-69685377	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193184899	chr4:69685393-69685394	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576703628	chr4:69685394-69685395	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545436384	chr4:69685396-69685397	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559002110	chr4:69685399-69685400	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117918025	chr4:69685421-69685422	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572857899	chr4:69685453-69685454	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372583326	chr4:69685473-69685474	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574269762	chr4:69685476-69685477	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs835314	chr4:69685482-69685483	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369271849	chr4:69685505-69685506	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550377110	chr4:69685520-69685521	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564017449	chr4:69685532-69685533	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560222190	chr4:69685538-69685539	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114688975	chr4:69685594-69685595	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552613157	chr4:69685644-69685645	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185511305	chr4:69685690-69685691	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76957249	chr4:69685752-69685753	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548627647	chr4:69685769-69685770	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs835315	chr4:69685772-69685773	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537276785	chr4:69685808-69685809	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs835316	chr4:69685853-69685854	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369205211	chr4:69685919-69685920	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547056651	chr4:69685928-69685929	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116742506	chr4:69685938-69685939	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539303376	chr4:69685953-69685954	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113342890	chr4:69685965-69685966	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189496197	chr4:69685976-69685977	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532817738	chr4:69685979-69685980	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541448154	chr4:69685994-69685995	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs180675286	chr4:69686037-69686038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69684200-69686000	Enhancers	HepG2	liver
2	chr4:69684600-69686000	Flanking Active TSS	Liver	Liver
3	chr4:69686000-69686600	Enhancers	Liver	Liver
4	chr4:69686000-69688000	Weak transcription	HepG2	liver
5	chr4:69686600-69686800	Flanking Active TSS	Liver	Liver
6	chr4:69686800-69687000	Enhancers	Liver	Liver
7	chr4:69687000-69687200	Flanking Active TSS	Liver	Liver
8	chr4:69687200-69688600	Weak transcription	Liver	Liver
9	chr4:69688000-69690200	Enhancers	HepG2	liver
10	chr4:69688600-69689200	Genic enhancers	Liver	Liver
11	chr4:69689200-69693800	Weak transcription	Liver	Liver
12	chr4:69689800-69690000	Enhancers	Pancreas	Pancrea
13	chr4:69690200-69690600	Weak transcription	HepG2	liver
14	chr4:69690600-69690800	Enhancers	HepG2	liver
15	chr4:69690800-69693800	Weak transcription	HepG2	liver
16	chr4:69693800-69694800	Strong transcription	Liver	Liver
17	chr4:69693800-69694800	Strong transcription	HepG2	liver
18	chr4:69694800-69695600	Weak transcription	Liver	Liver
19	chr4:69694800-69702400	Weak transcription	HepG2	liver
20	chr4:69695600-69696000	Strong transcription	Liver	Liver
21	chr4:69696000-69696800	Weak transcription	Liver	Liver
22	chr4:69696800-69697600	Genic enhancers	Liver	Liver
23	chr4:69697600-69699400	Strong transcription	Liver	Liver
24	chr4:69699400-69701800	Weak transcription	Liver	Liver
25	chr4:69708200-69708600	ZNF genes & repeats	Adipose Nuclei	Adipose
26	chr4:69708400-69711200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr4:69710000-69710400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:69710400-69710600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:69710400-69711600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:69719600-69719800	Enhancers	Pancreas	Pancrea
31	chr4:69719800-69736600	Weak transcription	Pancreas	Pancrea

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