Variant report

Variant	esv3431684
Chromosome Location	chr4:63164857-63168255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370612489	chr4:63165454-63165455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149334846	chr4:63165483-63165484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556405535	chr4:63165513-63165514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577683828	chr4:63165571-63165572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530265793	chr4:63165607-63165608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143647589	chr4:63165655-63165656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35004964	chr4:63165662-63165663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs5858755	chr4:63165667-63165668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545702911	chr4:63167262-63167263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186763525	chr4:63167318-63167319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191003031	chr4:63167386-63167387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546373853	chr4:63167458-63167459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565863141	chr4:63167480-63167481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530205419	chr4:63167481-63167482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548330711	chr4:63167492-63167493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1459808	chr4:63167496-63167497	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529792049	chr4:63167509-63167510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143162024	chr4:63167520-63167521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182923617	chr4:63167536-63167537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373783671	chr4:63167562-63167563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553585479	chr4:63167573-63167574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150890029	chr4:63167576-63167577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139404874	chr4:63167583-63167584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150070060	chr4:63167615-63167616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575199792	chr4:63167623-63167624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545357743	chr4:63167678-63167679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373308731	chr4:63167705-63167706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537564022	chr4:63167706-63167707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528347022	chr4:63167729-63167730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187261753	chr4:63167767-63167768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561908692	chr4:63167802-63167803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529037636	chr4:63167805-63167806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548663785	chr4:63167810-63167811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80085383	chr4:63167852-63167853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548297408	chr4:63167855-63167856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115767599	chr4:63167912-63167913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139060474	chr4:63167916-63167917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78278547	chr4:63167917-63167918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535333660	chr4:63167920-63167921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117881230	chr4:63167930-63167931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200547866	chr4:63167943-63167944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192597925	chr4:63167947-63167948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79530415	chr4:63167993-63167994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575232263	chr4:63168027-63168028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555431472	chr4:63168072-63168073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77598362	chr4:63168116-63168117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560178555	chr4:63168129-63168130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114804804	chr4:63168135-63168136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540143717	chr4:63168195-63168196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568269398	chr4:63168248-63168249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:63165400-63165600	Enhancers	H1 Cell Line	embryonic stem cell
2	chr4:63165400-63165600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:63165400-63165800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:63165400-63165800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:63165400-63165800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:63165400-63165800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:63165400-63165800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:63167200-63172400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:63167400-63167600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:63167600-63168400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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