Variant report

Variant	nsv967947
Chromosome Location	chr4:58041508-58044849
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	CTCF	chr4:58042080-58042230	GM12878	blood:	n/a	n/a
2	FOXA1	chr4:58043431-58043704	A549	lung:	n/a	chr4:58043599-58043611
3	MYC	chr4:58042166-58042188	NB4	blood:	n/a	n/a
4	POLR2A	chr4:58042170-58042233	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
IGFBP7-AS1	TF binding region

Extended variants
information (count: 123 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543570001	chr4:58041521-58041522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77877236	chr4:58041530-58041531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150500564	chr4:58041545-58041546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139476026	chr4:58041548-58041549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542804641	chr4:58041570-58041571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544491062	chr4:58041578-58041579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377378627	chr4:58041589-58041590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559726202	chr4:58041622-58041623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4446384	chr4:58041624-58041625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545016329	chr4:58041633-58041634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191674916	chr4:58041720-58041721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527795690	chr4:58041724-58041725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200214880	chr4:58041740-58041741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552124928	chr4:58041749-58041750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4412045	chr4:58041751-58041752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372770196	chr4:58041764-58041765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531899288	chr4:58041773-58041774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537400348	chr4:58041790-58041791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149674593	chr4:58041906-58041907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183130027	chr4:58041913-58041914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185830648	chr4:58041967-58041968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4470700	chr4:58042029-58042030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568560840	chr4:58042034-58042035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189755783	chr4:58042040-58042041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535189830	chr4:58042076-58042077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147741868	chr4:58042135-58042136	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs79243194	chr4:58042162-58042163	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs557184206	chr4:58042178-58042179	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565750381	chr4:58042256-58042257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542890678	chr4:58042259-58042260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553181427	chr4:58042287-58042288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573208025	chr4:58042320-58042321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539567921	chr4:58042342-58042343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370692582	chr4:58042343-58042344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182486463	chr4:58042476-58042477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187862585	chr4:58042573-58042574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565158343	chr4:58042619-58042620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557452133	chr4:58042660-58042661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142666018	chr4:58042692-58042693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193214208	chr4:58042720-58042721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545916008	chr4:58042738-58042739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560687799	chr4:58042792-58042793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34378112	chr4:58042811-58042812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571888123	chr4:58042815-58042816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148349181	chr4:58042918-58042919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549201879	chr4:58042921-58042922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113981082	chr4:58042936-58042937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555591122	chr4:58042962-58042963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528660144	chr4:58042973-58042974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551793397	chr4:58042981-58042982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58038600-58047000	Weak transcription	Fetal Heart	heart
2	chr4:58040000-58044200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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