Variant report

Variant	nsv980457
Chromosome Location	chr4:85027407-85041791
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	chr4:85024708..85027047-chr4:85028536..85030200,2	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528043097	chr4:85027408-85027409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550726572	chr4:85027409-85027410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551476756	chr4:85027447-85027448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190659539	chr4:85027448-85027449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10022978	chr4:85027482-85027483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73833626	chr4:85027521-85027522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369752041	chr4:85027528-85027529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10025498	chr4:85027553-85027554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12648456	chr4:85027588-85027589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12651174	chr4:85027612-85027613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540897595	chr4:85027621-85027622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541775091	chr4:85027648-85027649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181194963	chr4:85027672-85027673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185284482	chr4:85027688-85027689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546317097	chr4:85027703-85027704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564604024	chr4:85027721-85027722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191453012	chr4:85027729-85027730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540592381	chr4:85027746-85027747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182415138	chr4:85027767-85027768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10011759	chr4:85027770-85027771	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs145286026	chr4:85027824-85027825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187953096	chr4:85027853-85027854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533385935	chr4:85027897-85027898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34651534	chr4:85027906-85027907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs397795309	chr4:85027909-85027910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10033438	chr4:85027967-85027968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs139860694	chr4:85027969-85027970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191890438	chr4:85027970-85027971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538966296	chr4:85027993-85027994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567973991	chr4:85027999-85028000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112008565	chr4:85028065-85028066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183513986	chr4:85028091-85028092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575500647	chr4:85028134-85028135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539672178	chr4:85028144-85028145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558004435	chr4:85028172-85028173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573252672	chr4:85028220-85028221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540378876	chr4:85028293-85028294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371921533	chr4:85028309-85028310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77014533	chr4:85028399-85028400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145194587	chr4:85028435-85028436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544491877	chr4:85028438-85028439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187477814	chr4:85028458-85028459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149153350	chr4:85028481-85028482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551533147	chr4:85028503-85028504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140805881	chr4:85028510-85028511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111429112	chr4:85028512-85028513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200202751	chr4:85028514-85028515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10579092	chr4:85028515-85028516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556742453	chr4:85028519-85028520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4693672	chr4:85028607-85028608	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:76)

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
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
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
Prostate cancer	16573809	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85026400-85030200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:85030200-85032800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:85030400-85031600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:85031200-85031400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:85031200-85031600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:85031400-85031600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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