Variant report

Variant	esv3467743
Chromosome Location	chr4:187395758-187401256
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	chr4:187394348..187396815-chr4:187456742..187459587,2	K562	blood:
2	chr4:187400808..187402522-chr4:187420720..187422452,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251165	chromatin interactions
ENSG00000212387	chromatin interactions

Extended variants
information (count: 455 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144318921	chr4:187395760-187395761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535688172	chr4:187395795-187395796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555606615	chr4:187395803-187395804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76663879	chr4:187395805-187395806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540978078	chr4:187395809-187395810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183227741	chr4:187395852-187395853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187811382	chr4:187395879-187395880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151051272	chr4:187395919-187395920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140836186	chr4:187395923-187395924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529062494	chr4:187395950-187395951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549217779	chr4:187395967-187395968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs60138016	chr4:187395978-187395979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560611620	chr4:187395988-187395989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150138627	chr4:187395991-187395992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145650724	chr4:187395997-187395998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74477706	chr4:187396017-187396018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375880874	chr4:187396022-187396023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116812485	chr4:187396024-187396025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549847911	chr4:187396026-187396027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569832362	chr4:187396037-187396038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192915141	chr4:187396040-187396041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116266009	chr4:187396041-187396042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115140833	chr4:187396050-187396051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565995697	chr4:187396062-187396063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535001017	chr4:187396067-187396068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558478249	chr4:187396080-187396081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141419925	chr4:187396090-187396091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568659086	chr4:187396099-187396100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543418966	chr4:187396177-187396178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577739057	chr4:187396181-187396182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13107608	chr4:187396185-187396186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573780005	chr4:187396187-187396188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542802569	chr4:187396193-187396194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137928585	chr4:187396218-187396219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184421664	chr4:187396229-187396230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544952214	chr4:187396231-187396232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565220392	chr4:187396240-187396241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533141037	chr4:187396270-187396271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143368583	chr4:187396271-187396272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187558965	chr4:187396272-187396273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534116348	chr4:187396302-187396303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113780106	chr4:187396303-187396304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192468865	chr4:187396311-187396312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201891850	chr4:187396330-187396331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200879038	chr4:187396333-187396334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150115735	chr4:187396353-187396354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138220514	chr4:187396357-187396358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79228543	chr4:187396382-187396383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66888878	chr4:187396398-187396399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141322735	chr4:187396417-187396418	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
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187394200-187395800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:187395400-187403600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:187395400-187413600	Weak transcription	K562	blood
4	chr4:187395600-187395800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr4:187395600-187396000	Enhancers	Sigmoid Colon	Sigmoid Colon

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