Variant report

Variant	esv275358
Chromosome Location	chr4:59461665-59471608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 406 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:406 , 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	rs13150466	chr4:59461665-59461666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563918147	chr4:59461680-59461681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528424930	chr4:59461681-59461682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540514043	chr4:59461692-59461693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370898833	chr4:59461694-59461695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181468034	chr4:59461713-59461714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375363091	chr4:59461724-59461725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149577115	chr4:59461752-59461753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538758699	chr4:59461758-59461759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144284943	chr4:59461777-59461778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556833248	chr4:59461779-59461780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533442049	chr4:59461796-59461797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552048233	chr4:59461807-59461808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74751956	chr4:59461829-59461830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534090683	chr4:59461848-59461849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556027886	chr4:59461864-59461865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567834842	chr4:59461898-59461899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148728168	chr4:59461920-59461921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575385355	chr4:59461925-59461926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143570867	chr4:59461938-59461939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536089960	chr4:59462013-59462014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575025656	chr4:59462100-59462101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1911989	chr4:59462146-59462147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557573691	chr4:59462147-59462148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186743885	chr4:59462148-59462149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540008659	chr4:59462165-59462166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562028124	chr4:59462198-59462199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13107154	chr4:59462375-59462376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs282737	chr4:59462407-59462408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146765092	chr4:59462409-59462410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577960052	chr4:59462413-59462414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115123827	chr4:59462429-59462430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551913122	chr4:59462433-59462434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143973931	chr4:59462452-59462453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202019368	chr4:59462471-59462472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201129383	chr4:59462476-59462477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149446804	chr4:59462490-59462491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370388427	chr4:59462508-59462509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17089470	chr4:59462593-59462594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72630960	chr4:59462596-59462597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs190199158	chr4:59462681-59462682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549277716	chr4:59462759-59462760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181000225	chr4:59462790-59462791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76799204	chr4:59462869-59462870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372346147	chr4:59462882-59462883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556587195	chr4:59462889-59462890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144101380	chr4:59462964-59462965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539007575	chr4:59462971-59462972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113744072	chr4:59462982-59462983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150971440	chr4:59463000-59463001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	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

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59461600-59462600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:59461600-59463200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:59462600-59463800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:59462800-59463400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:59462800-59463400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:59462800-59463600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:59462800-59463800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:59463000-59463600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:59463200-59463400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:59463200-59463600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:59463200-59463600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:59463200-59463600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr4:59463400-59465200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:59463400-59466400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr4:59463400-59469200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:59463600-59464800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:59463600-59465600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:59463600-59466000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:59463600-59466600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:59463800-59465000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:59463800-59465800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:59464800-59465000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr4:59465000-59466000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:59465000-59467000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:59465200-59465400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:59465200-59467600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:59465400-59469400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:59465600-59469600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:59465800-59470800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:59466000-59466600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr4:59466000-59467200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr4:59466400-59467000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:59466600-59467200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr4:59466600-59468200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:59467000-59468200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:59467000-59468400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:59467200-59468400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:59467200-59470400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:59467600-59468600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:59468200-59469800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr4:59468200-59470600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:59468400-59470800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:59468600-59470400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr4:59469400-59469600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr4:59469600-59470000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr4:59469800-59470200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr4:59470000-59470400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr4:59470200-59470800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:59470400-59471000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr4:59470400-59471400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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