Variant report

Variant	nsv967970
Chromosome Location	chr4:131248459-131254319
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	chr4:131242207..131244895-chr4:131247047..131249107,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562186050	chr4:131248471-131248472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116583912	chr4:131248539-131248540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547456128	chr4:131248541-131248542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4597848	chr4:131248686-131248687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4505838	chr4:131248739-131248740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186961446	chr4:131248742-131248743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12641553	chr4:131248797-131248798	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12641557	chr4:131248813-131248814	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs549147514	chr4:131248828-131248829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191792858	chr4:131248839-131248840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567378515	chr4:131248900-131248901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576244018	chr4:131248924-131248925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17050962	chr4:131248948-131248949	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12509048	chr4:131248984-131248985	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs577824969	chr4:131248986-131248987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537718669	chr4:131249011-131249012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145010026	chr4:131249012-131249013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554848957	chr4:131249020-131249021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72680352	chr4:131249033-131249034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557044606	chr4:131249050-131249051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576666510	chr4:131249068-131249069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543786157	chr4:131249077-131249078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571990943	chr4:131249080-131249081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574114277	chr4:131249116-131249117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572823802	chr4:131254223-131254224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143582774	chr4:131254235-131254236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183119491	chr4:131254242-131254243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535250685	chr4:131254264-131254265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531811628	chr4:131254274-131254275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6534782	chr4:131254295-131254296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
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
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
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:131247800-131248800	Weak transcription	Liver	Liver
2	chr4:131248400-131249200	Enhancers	Adipose Nuclei	Adipose
3	chr4:131248800-131249000	Enhancers	Liver	Liver
4	chr4:131254200-131255600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:131254200-131255800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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