Variant report

Variant	nsv966319
Chromosome Location	chr4:130080770-130085002
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	chr4:130076709..130080832-chr4:130084299..130086360,3	K562	blood:
2	chr4:130076709..130080832-chr4:130084299..130086360,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35974717	chr4:130084420-130084421	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs376746216	chr4:130084443-130084444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs369350643	chr4:130084495-130084496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs566890890	chr4:130084534-130084535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112076345	chr4:130084541-130084542	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs183492691	chr4:130084568-130084569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373492051	chr4:130084573-130084574	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577296116	chr4:130084646-130084647	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs72930000	chr4:130084670-130084671	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs556602388	chr4:130084689-130084690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs375565442	chr4:130084702-130084703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs575031340	chr4:130084705-130084706	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370061483	chr4:130084729-130084730	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs556079902	chr4:130084803-130084804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376407181	chr4:130084804-130084805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542067266	chr4:130084814-130084815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114135252	chr4:130084973-130084974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130084400-130084800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:130084800-130085400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:130085000-130085800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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