Variant report

Variant	esv18375
Chromosome Location	chr4:59977391-59988256
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs151002585	chr4:59977393-59977394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553519781	chr4:59977400-59977401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190928957	chr4:59977406-59977407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142843083	chr4:59977413-59977414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180790900	chr4:59977414-59977415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542638621	chr4:59977415-59977416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112425424	chr4:59977418-59977419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147409912	chr4:59977419-59977420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149978729	chr4:59977455-59977456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543619557	chr4:59977456-59977457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565178807	chr4:59977474-59977475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532565058	chr4:59977475-59977476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545119368	chr4:59977501-59977502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559978941	chr4:59977502-59977503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527298331	chr4:59977509-59977510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190987429	chr4:59977517-59977518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28857904	chr4:59977547-59977548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576334754	chr4:59977548-59977549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550087813	chr4:59977556-59977557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543004652	chr4:59977568-59977569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35520870	chr4:59977569-59977570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538433861	chr4:59977640-59977641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528672131	chr4:59977657-59977658	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs138077046	chr4:59977675-59977676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs566005400	chr4:59977679-59977680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs536654227	chr4:59977785-59977786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs74748663	chr4:59985046-59985047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574269418	chr4:59985052-59985053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541951473	chr4:59985072-59985073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs357838	chr4:59985093-59985094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530830214	chr4:59985098-59985099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111864318	chr4:59985110-59985111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533941356	chr4:59985151-59985152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6852453	chr4:59985190-59985191	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547311271	chr4:59985221-59985222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187085089	chr4:59985222-59985223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115592905	chr4:59985227-59985228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573637146	chr4:59985238-59985239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77684225	chr4:59985331-59985332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs74588556	chr4:59985387-59985388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs66541102	chr4:59985388-59985389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191605904	chr4:59985389-59985390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111508132	chr4:59985392-59985393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184512408	chr4:59985494-59985495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536651273	chr4:59985516-59985517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556669051	chr4:59985540-59985541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368748687	chr4:59985542-59985543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534628739	chr4:59985549-59985550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141251192	chr4:59985589-59985590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552830502	chr4:59985632-59985633	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59975800-59977600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:59977600-59977800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:59985000-59986200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:59985000-59987200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:59985400-59987000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:59986000-59986400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:59986200-59987000	Enhancers	A549	lung
8	chr4:59986200-59988200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:59986400-59986800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:59986400-59987200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:59986800-59987000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:59986800-59987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:59987000-59988200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:59987000-59991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:59987200-59988200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:59987200-59990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:59988200-59988400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr4:59988200-59988400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:59988200-59988600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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