Variant report

Variant	nsv518806
Chromosome Location	chr4:118122688-118204077
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	ATF2	chr4:118170387-118170829	GM12878	blood:	n/a	n/a
2	ATF2	chr4:118170301-118170999	GM12878	blood:	n/a	n/a
3	BACH1	chr4:118190490-118190628	K562	blood:	n/a	n/a
4	BCLAF1	chr4:118170447-118170800	GM12878	blood:	n/a	n/a
5	BHLHE40	chr4:118170563-118170763	GM12878	blood:	n/a	n/a
6	CEBPB	chr4:118143291-118143571	HepG2	liver:	n/a	n/a
7	CEBPB	chr4:118184551-118184778	A549	lung:	n/a	n/a
8	CEBPB	chr4:118145802-118146116	HepG2	liver:	n/a	chr4:118145937-118145948
9	CEBPB	chr4:118184528-118184814	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:118182153-118182416	HepG2	liver:	n/a	chr4:118182264-118182275
11	CEBPB	chr4:118143298-118143534	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr4:118145789-118146087	IMR90	lung:	n/a	chr4:118145937-118145948
13	CEBPB	chr4:118145816-118146120	A549	lung:	n/a	chr4:118145937-118145948
14	CREB1	chr4:118170470-118170870	GM12878	blood:	n/a	n/a
15	CTCF	chr4:118146597-118146611	K562	blood:	n/a	n/a
16	CTCF	chr4:118142040-118142190	HEK293	kidney:	n/a	n/a
17	CTCF	chr4:118179348-118179389	GM20000	blood:	n/a	n/a
18	CTCF	chr4:118141960-118142110	BE2_C	brain:	n/a	n/a
19	CTCF	chr4:118142020-118142170	BE2_C	brain:	n/a	n/a
20	CTCF	chr4:118157194-118157290	GM12892	blood:	n/a	n/a
21	CTCF	chr4:118174840-118174990	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr4:118141980-118142130	GM12872	blood:	n/a	n/a
23	CTCF	chr4:118170732-118170833	GM13977	blood:	n/a	n/a
24	CTCF	chr4:118176987-118177031	GM13976	blood:	n/a	n/a
25	CTCF	chr4:118142020-118142170	NHEK	skin:	n/a	n/a
26	CTCF	chr4:118190060-118190210	HepG2	liver:	n/a	n/a
27	CTCF	chr4:118191060-118191350	GM12865	blood:	n/a	n/a
28	CTCF	chr4:118141980-118142130	GM12873	blood:	n/a	n/a
29	CUX1	chr4:118170519-118170701	GM12878	blood:	n/a	n/a
30	E2F4	chr4:118130386-118130586	MCF10A-Er-Src	breast:	n/a	n/a
31	E2F4	chr4:118141904-118142089	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F4	chr4:118125902-118126035	MCF10A-Er-Src	breast:	n/a	n/a
33	EBF1	chr4:118170546-118170776	GM12878	blood:	n/a	n/a
34	EBF1	chr4:118171361-118171559	GM12878	blood:	n/a	chr4:118171516-118171527 chr4:118171496-118171507
35	EP300	chr4:118170599-118170823	GM12878	blood:	n/a	n/a
36	EP300	chr4:118170674-118170806	GM12878	blood:	n/a	n/a
37	FOS	chr4:118144902-118145092	MCF10A-Er-Src	breast:	n/a	chr4:118145060-118145069 chr4:118145060-118145070 chr4:118145060-118145070 chr4:118145062-118145069 chr4:118145057-118145068
38	FOS	chr4:118144890-118145217	MCF10A-Er-Src	breast:	n/a	chr4:118145060-118145069 chr4:118145060-118145070 chr4:118145060-118145070 chr4:118145062-118145069 chr4:118145057-118145068
39	FOS	chr4:118144929-118145091	MCF10A-Er-Src	breast:	n/a	chr4:118145060-118145069 chr4:118145060-118145070 chr4:118145060-118145070 chr4:118145062-118145069 chr4:118145057-118145068
40	FOXA1	chr4:118124461-118124763	T-47D	breast:	n/a	chr4:118124597-118124612
41	FOXA1	chr4:118124357-118124720	T-47D	breast:	n/a	chr4:118124597-118124612
42	FOXA2	chr4:118177935-118178164	A549	lung:	n/a	n/a
43	FOXA2	chr4:118177876-118178163	A549	lung:	n/a	n/a
44	FOXM1	chr4:118170441-118170920	GM12878	blood:	n/a	n/a
45	GATA3	chr4:118124372-118124797	T-47D	breast:	n/a	n/a
46	GATA3	chr4:118158363-118158495	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr4:118124353-118124808	MCF-7	breast:	n/a	n/a
48	GATA3	chr4:118124362-118124750	T-47D	breast:	n/a	n/a
49	IKZF1	chr4:118188706-118188805	GM12878	blood:	n/a	n/a
50	JUN	chr4:118184641-118184772	HepG2	liver:	n/a	chr4:118184681-118184694

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDST3-11	chr4:118171080-118171344	NONHSAT097949

Variant related genes	Relation type
ENSG00000223605	TF binding region

Extended variants
information (count: 713 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74691966	chr4:118157208-118157209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77813592	chr4:118157209-118157210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554767117	chr4:118157224-118157225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574619160	chr4:118157228-118157229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537357510	chr4:118157261-118157262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557029512	chr4:118157297-118157298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111695869	chr4:118157300-118157301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373186807	chr4:118157342-118157343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187348368	chr4:118157433-118157434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190936766	chr4:118157476-118157477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563463916	chr4:118157489-118157490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369609603	chr4:118157496-118157497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573033893	chr4:118157499-118157500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144181533	chr4:118157502-118157503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28646075	chr4:118157536-118157537	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148296533	chr4:118157612-118157613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531071458	chr4:118157650-118157651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141439512	chr4:118157716-118157717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560750663	chr4:118157734-118157735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150838511	chr4:118157764-118157765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532124696	chr4:118157766-118157767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112586025	chr4:118157776-118157777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9999009	chr4:118157777-118157778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs139310768	chr4:118157780-118157781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548035277	chr4:118157782-118157783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10001126	chr4:118157877-118157878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536887553	chr4:118157884-118157885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528958951	chr4:118157920-118157921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs181059425	chr4:118157947-118157948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10013183	chr4:118157978-118157979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs28497861	chr4:118157997-118157998	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552963839	chr4:118158004-118158005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201117969	chr4:118158012-118158013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550963874	chr4:118158036-118158037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62311837	chr4:118158066-118158067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542312388	chr4:118158096-118158097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555621415	chr4:118158109-118158110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575792222	chr4:118158120-118158121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4254845	chr4:118158129-118158130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564756422	chr4:118158180-118158181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185662223	chr4:118158182-118158183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4492062	chr4:118158211-118158212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116401653	chr4:118158252-118158253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190278047	chr4:118158271-118158272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370821667	chr4:118158283-118158284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182864039	chr4:118158326-118158327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568107664	chr4:118158333-118158334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146249041	chr4:118158375-118158376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550397033	chr4:118158386-118158387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570380358	chr4:118158394-118158395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118157200-118157400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:118157400-118168400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:118157800-118158000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:118160600-118160800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:118171200-118171600	ZNF genes & repeats	GM12878-XiMat	blood
6	chr4:118173800-118174800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:118178800-118179000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:118179000-118180200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:118179600-118180600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:118179800-118180600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:118180200-118180600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:118180200-118180600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:118180200-118180600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:118180600-118181800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:118181800-118182000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:118188200-118188800	Enhancers	GM12878-XiMat	blood

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