Variant report

Variant	esv2763787
Chromosome Location	chr4:59974071-59990876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 402 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534462615	chr4:59975804-59975805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6551577	chr4:59975809-59975810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574379624	chr4:59975813-59975814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541792140	chr4:59975919-59975920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556850062	chr4:59975923-59975924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371361309	chr4:59975935-59975936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575165521	chr4:59975949-59975950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545596649	chr4:59975950-59975951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374401785	chr4:59975956-59975957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563897220	chr4:59975981-59975982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181129783	chr4:59976036-59976037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185974468	chr4:59976048-59976049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367977757	chr4:59976091-59976092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113074328	chr4:59976123-59976124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112042771	chr4:59976128-59976129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529286789	chr4:59976133-59976134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372131252	chr4:59976138-59976139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550924102	chr4:59976147-59976148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190930031	chr4:59976155-59976156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533628677	chr4:59976163-59976164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571975835	chr4:59976170-59976171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183956607	chr4:59976207-59976208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567119363	chr4:59976235-59976236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149666209	chr4:59976260-59976261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187844267	chr4:59976292-59976293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568111040	chr4:59976319-59976320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535123911	chr4:59976326-59976327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190735033	chr4:59976333-59976334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183020790	chr4:59976343-59976344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13110374	chr4:59976351-59976352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368483109	chr4:59976353-59976354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557626659	chr4:59976380-59976381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572981447	chr4:59976385-59976386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540389749	chr4:59976402-59976403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368322335	chr4:59976477-59976478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187313809	chr4:59976478-59976479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544626495	chr4:59976499-59976500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370048409	chr4:59976517-59976518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192727267	chr4:59976528-59976529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564432320	chr4:59976529-59976530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540070986	chr4:59976549-59976550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552133747	chr4:59976576-59976577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145111090	chr4:59976577-59976578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527893337	chr4:59976585-59976586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540795388	chr4:59976604-59976605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184688526	chr4:59976623-59976624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568062845	chr4:59976642-59976643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187666755	chr4:59976643-59976644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192585961	chr4:59976645-59976646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6843543	chr4:59976665-59976666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:20 , 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
20	chr4:59990800-59991200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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