Variant report

Variant	nsv964278
Chromosome Location	chr4:121488301-121491257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184703339	chr4:121488303-121488304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78666826	chr4:121488332-121488333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573008767	chr4:121488335-121488336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148404049	chr4:121488367-121488368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375791989	chr4:121488403-121488404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62324420	chr4:121488408-121488409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs530434820	chr4:121488409-121488410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10010658	chr4:121488431-121488432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564648252	chr4:121488434-121488435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533645315	chr4:121488436-121488437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9684020	chr4:121488437-121488438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142510190	chr4:121488446-121488447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550641788	chr4:121488483-121488484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549054591	chr4:121488513-121488514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569292263	chr4:121488535-121488536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9684033	chr4:121488580-121488581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551721555	chr4:121488642-121488643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139858447	chr4:121488673-121488674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34658062	chr4:121488694-121488695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190143996	chr4:121488728-121488729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553186655	chr4:121488735-121488736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372383051	chr4:121488748-121488749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182245716	chr4:121488773-121488774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576183917	chr4:121488794-121488795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200796195	chr4:121488812-121488813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9683434	chr4:121488940-121488941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs80195377	chr4:121488945-121488946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555174477	chr4:121488967-121488968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575271071	chr4:121489032-121489033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143831504	chr4:121489129-121489130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72674325	chr4:121489167-121489168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs578209642	chr4:121489178-121489179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540523901	chr4:121489193-121489194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369643455	chr4:121489224-121489225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539483007	chr4:121489304-121489305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187457469	chr4:121489331-121489332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549117854	chr4:121489370-121489371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146851681	chr4:121489462-121489463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531794075	chr4:121489574-121489575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112733536	chr4:121489787-121489788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571594473	chr4:121489788-121489789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539788837	chr4:121489823-121489824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546905592	chr4:121489860-121489861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140528286	chr4:121489898-121489899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535670091	chr4:121489952-121489953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370670051	chr4:121489958-121489959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1532055	chr4:121489983-121489984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558227072	chr4:121490009-121490010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191865359	chr4:121490042-121490043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7688711	chr4:121490056-121490057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121483800-121490200	Weak transcription	Fetal Lung	lung
2	chr4:121490000-121490200	Enhancers	Psoas Muscle	Psoas
3	chr4:121490000-121491600	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:121490200-121490400	Enhancers	Fetal Lung	lung

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