Variant report

Variant	esv3443939
Chromosome Location	chr4:188089508-188091781
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:188083083..188085833-chr4:188087348..188090241,2	MCF-7	breast:

Extended variants
information (count: 114 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191424250	chr4:188089518-188089519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184270024	chr4:188089554-188089555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2376162	chr4:188089563-188089564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532646826	chr4:188089573-188089574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552742129	chr4:188089598-188089599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569258376	chr4:188089603-188089604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150930142	chr4:188089605-188089606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548575209	chr4:188089635-188089636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187097304	chr4:188089749-188089750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534094618	chr4:188089751-188089752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192928636	chr4:188089772-188089773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56383442	chr4:188089778-188089779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577070497	chr4:188089800-188089801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539138307	chr4:188089848-188089849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544653689	chr4:188089861-188089862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11940678	chr4:188089926-188089927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541823141	chr4:188089931-188089932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185159735	chr4:188089948-188089949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572308080	chr4:188089949-188089950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541011485	chr4:188089970-188089971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564260208	chr4:188090101-188090102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533194391	chr4:188090118-188090119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150684420	chr4:188090153-188090154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560365795	chr4:188090173-188090174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201116608	chr4:188090174-188090175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567617022	chr4:188090175-188090176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201625488	chr4:188090176-188090177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs66591072	chr4:188090177-188090178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370119579	chr4:188090202-188090203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28392520	chr4:188090203-188090204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147108863	chr4:188090230-188090231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190394986	chr4:188090297-188090298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568615433	chr4:188090373-188090374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13113265	chr4:188090423-188090424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs79771726	chr4:188090425-188090426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542732200	chr4:188090441-188090442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76274214	chr4:188090458-188090459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141406687	chr4:188090469-188090470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546380929	chr4:188090512-188090513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370804167	chr4:188090523-188090524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115753493	chr4:188090527-188090528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71595137	chr4:188090531-188090532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561058823	chr4:188090535-188090536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375242011	chr4:188090549-188090550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72372706	chr4:188090550-188090551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13118453	chr4:188090570-188090571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373503944	chr4:188090573-188090574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67176277	chr4:188090587-188090588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13118614	chr4:188090597-188090598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12508436	chr4:188090608-188090609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188088800-188092800	Weak transcription	Adipose Nuclei	Adipose
2	chr4:188089000-188093200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:188089200-188090800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:188089200-188092800	Weak transcription	Fetal Lung	lung
5	chr4:188089200-188093000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:188089200-188093000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:188090800-188091600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:188091200-188091400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:188091400-188091600	Enhancers	Right Atrium	heart
10	chr4:188091400-188091600	Enhancers	Stomach Mucosa	stomach
11	chr4:188091600-188093200	Enhancers	NHLF	lung
12	chr4:188091600-188093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:188091600-188098800	Weak transcription	Right Atrium	heart

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