Variant report

Variant	nsv966518
Chromosome Location	chr4:63091014-63093950
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	chr4:63083250..63085262-chr4:63091048..63093534,2	K562	blood:

Extended variants
information (count: 140 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138582855	chr4:63091015-63091016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558045228	chr4:63091023-63091024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578180394	chr4:63091090-63091091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141687409	chr4:63091102-63091103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192235140	chr4:63091104-63091105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145403064	chr4:63091116-63091117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549113408	chr4:63091138-63091139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560934588	chr4:63091139-63091140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537251649	chr4:63091153-63091154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73211582	chr4:63091165-63091166	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs573443844	chr4:63091166-63091167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549467744	chr4:63091189-63091190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571567686	chr4:63091193-63091194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538538099	chr4:63091198-63091199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540624010	chr4:63091251-63091252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184257611	chr4:63091283-63091284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35604851	chr4:63091285-63091286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556850044	chr4:63091304-63091305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373647285	chr4:63091365-63091366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187935370	chr4:63091366-63091367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573757450	chr4:63091367-63091368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575423650	chr4:63091369-63091370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs193086091	chr4:63091391-63091392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536453265	chr4:63091448-63091449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552580847	chr4:63091468-63091469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556280435	chr4:63091472-63091473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536943884	chr4:63091474-63091475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375526909	chr4:63091486-63091487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114601367	chr4:63091490-63091491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545360471	chr4:63091494-63091495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377219620	chr4:63091518-63091519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554428852	chr4:63091519-63091520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149527796	chr4:63091641-63091642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75621812	chr4:63091658-63091659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546146438	chr4:63091663-63091664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184516739	chr4:63091675-63091676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560971285	chr4:63091692-63091693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531433465	chr4:63091715-63091716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs202135209	chr4:63091752-63091753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540777550	chr4:63091756-63091757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11940467	chr4:63091765-63091766	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532100568	chr4:63091768-63091769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547398849	chr4:63091771-63091772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34187283	chr4:63091812-63091813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117826747	chr4:63091833-63091834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547973241	chr4:63091837-63091838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567467475	chr4:63091856-63091857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553458849	chr4:63091868-63091869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556554093	chr4:63091905-63091906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112716544	chr4:63091939-63091940	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:63091000-63092000	Enhancers	Fetal Brain Male	brain
2	chr4:63091000-63092200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:63091000-63092200	Enhancers	Fetal Heart	heart
4	chr4:63091000-63092200	Enhancers	Fetal Muscle Leg	muscle
5	chr4:63091000-63093000	Enhancers	Brain Germinal Matrix	brain
6	chr4:63091200-63092000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:63091400-63092000	Enhancers	Aorta	Aorta
8	chr4:63091600-63092200	Enhancers	Fetal Lung	lung
9	chr4:63091800-63092200	Enhancers	Fetal Brain Female	brain
10	chr4:63091800-63092200	Enhancers	Fetal Stomach	stomach
11	chr4:63093000-63098200	Weak transcription	Brain Germinal Matrix	brain

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