Variant report

Variant	nsv964276
Chromosome Location	chr4:81543380-81555021
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	chr4:81543453..81546267-chr4:81555168..81557103,2	MCF-7	breast:

Extended variants
information (count: 344 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76040785	chr4:81544904-81544905	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs73832429	chr4:81544943-81544944	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs373755105	chr4:81544946-81544947	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572946627	chr4:81544950-81544951	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545189156	chr4:81544963-81544964	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564391482	chr4:81544974-81544975	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370376450	chr4:81544985-81544986	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138781596	chr4:81544988-81544989	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs142758129	chr4:81545010-81545011	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563660163	chr4:81545021-81545022	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs147376586	chr4:81545027-81545028	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549408947	chr4:81545057-81545058	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566367331	chr4:81545062-81545063	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568850392	chr4:81545068-81545069	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs1486026	chr4:81545083-81545084	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551965418	chr4:81545097-81545098	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191703083	chr4:81545147-81545148	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs74399054	chr4:81545153-81545154	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375617483	chr4:81545172-81545173	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566911511	chr4:81545195-81545196	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs148414761	chr4:81545238-81545239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1038530	chr4:81545247-81545248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142497593	chr4:81545254-81545255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150701083	chr4:81545286-81545287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529636467	chr4:81545295-81545296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373915526	chr4:81545303-81545304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1038531	chr4:81545310-81545311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371967206	chr4:81545326-81545327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139999340	chr4:81545366-81545367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184041900	chr4:81545394-81545395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543928178	chr4:81545401-81545402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1038532	chr4:81545419-81545420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574038539	chr4:81545462-81545463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79216513	chr4:81545500-81545501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116636707	chr4:81545593-81545594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1905967	chr4:81545610-81545611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76722237	chr4:81545638-81545639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115761932	chr4:81545688-81545689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189124179	chr4:81545698-81545699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181493284	chr4:81545737-81545738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187389810	chr4:81545739-81545740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535830583	chr4:81545787-81545788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190355217	chr4:81545809-81545810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75551631	chr4:81545811-81545812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538910182	chr4:81545844-81545845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181037020	chr4:81545878-81545879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575509965	chr4:81545898-81545899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538044898	chr4:81545911-81545912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557452836	chr4:81545968-81545969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574097136	chr4:81545980-81545981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81544800-81545200	Active TSS	Fetal Heart	heart
2	chr4:81545000-81545200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:81545200-81556600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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