Variant report

Variant	esv3340202
Chromosome Location	chr4:187325058-187329656
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	chr4:187327492..187329160-chr4:187332412..187335274,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533022446	chr4:187325440-187325441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559985238	chr4:187325476-187325477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550716899	chr4:187325518-187325519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11417967	chr4:187325556-187325557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369548887	chr4:187325557-187325558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10611063	chr4:187325617-187325618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10611105	chr4:187325620-187325621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200817029	chr4:187325631-187325632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117889812	chr4:187325632-187325633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142850092	chr4:187325641-187325642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188377249	chr4:187325646-187325647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530392731	chr4:187325702-187325703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181204447	chr4:187325705-187325706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150496813	chr4:187325708-187325709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566978216	chr4:187325732-187325733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146008720	chr4:187325755-187325756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115832271	chr4:187325786-187325787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115227613	chr4:187325815-187325816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538473637	chr4:187325819-187325820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72712665	chr4:187325841-187325842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575507755	chr4:187325864-187325865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537004359	chr4:187325875-187325876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557327333	chr4:187325930-187325931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574128038	chr4:187326041-187326042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138658497	chr4:187326047-187326048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36107986	chr4:187326137-187326138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75190642	chr4:187326139-187326140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573446447	chr4:187326143-187326144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113138520	chr4:187326218-187326219	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs539121494	chr4:187326260-187326261	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs372765977	chr4:187326265-187326266	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150798674	chr4:187326280-187326281	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114229587	chr4:187326294-187326295	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567269260	chr4:187326326-187326327	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs139177920	chr4:187326330-187326331	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs116647573	chr4:187326346-187326347	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546265631	chr4:187326381-187326382	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs76587087	chr4:187326405-187326406	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs552358601	chr4:187326435-187326436	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569009764	chr4:187326446-187326447	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538140505	chr4:187326457-187326458	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370992912	chr4:187326484-187326485	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539313017	chr4:187326577-187326578	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs79691272	chr4:187326615-187326616	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185748663	chr4:187326626-187326627	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs34103971	chr4:187326672-187326673	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs191655834	chr4:187326719-187326720	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112546237	chr4:187326729-187326730	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs2044865	chr4:187326738-187326739	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545227169	chr4:187326747-187326748	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Melanoma	20877625	CNVD
Glioma	20126413	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187325400-187326200	Enhancers	A549	lung
2	chr4:187325600-187326200	Enhancers	Fetal Kidney	kidney
3	chr4:187325800-187326000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:187325800-187326000	Enhancers	Gastric	stomach
5	chr4:187325800-187326200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:187325800-187326200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:187326000-187327000	Weak transcription	Gastric	stomach
8	chr4:187326000-187329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:187326200-187326800	Active TSS	A549	lung
10	chr4:187326200-187327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:187326800-187327400	Enhancers	A549	lung
12	chr4:187327000-187327200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:187327000-187327400	Enhancers	Fetal Lung	lung
14	chr4:187327000-187327600	ZNF genes & repeats	Gastric	stomach
15	chr4:187327000-187327600	Enhancers	Pancreas	Pancrea
16	chr4:187327200-187327400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:187327200-187327600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:187327200-187327600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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