Variant report

Variant	nsv966313
Chromosome Location	chr4:118495717-118496996
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	chr4:118490388..118492946-chr4:118494495..118496357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236922	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572665017	chr4:118495718-118495719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs61071852	chr4:118495764-118495765	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs17867501	chr4:118495836-118495837	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs555218963	chr4:118495840-118495841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs76741950	chr4:118495850-118495851	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs575189112	chr4:118495868-118495869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544271154	chr4:118495884-118495885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112680399	chr4:118495885-118495886	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111372300	chr4:118495920-118495921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs397772888	chr4:118495929-118495930	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17862038	chr4:118495930-118495931	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77447797	chr4:118495954-118495955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78267910	chr4:118495969-118495970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs17866434	chr4:118495996-118495997	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17866159	chr4:118496002-118496003	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs17865035	chr4:118496014-118496015	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs370657284	chr4:118496019-118496020	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72683200	chr4:118496030-118496031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375830371	chr4:118496039-118496040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113405391	chr4:118496044-118496045	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112610661	chr4:118496049-118496050	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111298971	chr4:118496065-118496066	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112842673	chr4:118496069-118496070	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529482938	chr4:118496082-118496083	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11562892	chr4:118496090-118496091	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111577550	chr4:118496103-118496104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs111710631	chr4:118496117-118496118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs17862039	chr4:118496138-118496139	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192052198	chr4:118496145-118496146	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550305927	chr4:118496146-118496147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs17870011	chr4:118496147-118496148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112430107	chr4:118496154-118496155	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570385090	chr4:118496160-118496161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539075639	chr4:118496193-118496194	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111263209	chr4:118496198-118496199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185240499	chr4:118496205-118496206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17862040	chr4:118496212-118496213	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13139569	chr4:118496224-118496225	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188896063	chr4:118496251-118496252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141893938	chr4:118496290-118496291	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544448176	chr4:118496297-118496298	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs3811751	chr4:118496298-118496299	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs3811752	chr4:118496299-118496300	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs367635236	chr4:118496304-118496305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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