Variant report

Variant	nsv594690
Chromosome Location	chr4:76318922-76319717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183138929	chr4:76318925-76318926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187432228	chr4:76318977-76318978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2199606	chr4:76318979-76318980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs564713348	chr4:76319025-76319026	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532218597	chr4:76319049-76319050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs535506652	chr4:76319076-76319077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142864757	chr4:76319126-76319127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs191915473	chr4:76319195-76319196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369396272	chr4:76319246-76319247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139190899	chr4:76319251-76319252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529665928	chr4:76319267-76319268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184773596	chr4:76319284-76319285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7690198	chr4:76319314-76319315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs188239459	chr4:76319315-76319316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547364362	chr4:76319325-76319326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571859796	chr4:76319344-76319345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539244093	chr4:76319392-76319393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557444527	chr4:76319393-76319394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569273433	chr4:76319394-76319395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536612464	chr4:76319395-76319396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554649102	chr4:76319396-76319397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573215669	chr4:76319399-76319400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192476200	chr4:76319403-76319404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11941369	chr4:76319424-76319425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576585867	chr4:76319452-76319453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11938541	chr4:76319495-76319496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142542694	chr4:76319502-76319503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184398263	chr4:76319507-76319508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11941411	chr4:76319535-76319536	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559890948	chr4:76319544-76319545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151090774	chr4:76319545-76319546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547273498	chr4:76319598-76319599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555708968	chr4:76319619-76319620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74695647	chr4:76319658-76319659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60769264	chr4:76319679-76319680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201193548	chr4:76319683-76319684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199636658	chr4:76319684-76319685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Autism	18414403	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76317200-76321800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:76317400-76319000	Weak transcription	Pancreas	Pancrea
3	chr4:76319000-76319200	ZNF genes & repeats	Pancreas	Pancrea

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