Variant report

Variant	nsv1022827
Chromosome Location	chr4:158581163-158594600
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	chr4:158578546..158581523-chr4:158583240..158586033,2	K562	blood:
2	chr4:158578546..158581523-chr4:158583240..158586033,2	K562	blood:

Extended variants
information (count: 144 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148662147	chr4:158585406-158585407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575513217	chr4:158585420-158585421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542544597	chr4:158585460-158585461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182270499	chr4:158585546-158585547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572698917	chr4:158585547-158585548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568500691	chr4:158585575-158585576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539980492	chr4:158585580-158585581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4305568	chr4:158585585-158585586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141292534	chr4:158585624-158585625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34840834	chr4:158585644-158585645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544209738	chr4:158585705-158585706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185331834	chr4:158585714-158585715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531262814	chr4:158585722-158585723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549406638	chr4:158585765-158585766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13133267	chr4:158585830-158585831	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs377135828	chr4:158585835-158585836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528704088	chr4:158585845-158585846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547166974	chr4:158585875-158585876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28692799	chr4:158585886-158585887	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538464187	chr4:158585948-158585949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116057956	chr4:158585962-158585963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114541376	chr4:158585988-158585989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs28663301	chr4:158585990-158585991	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs554557824	chr4:158586010-158586011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150846979	chr4:158586012-158586013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535078176	chr4:158586032-158586033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555077720	chr4:158586045-158586046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571970702	chr4:158586152-158586153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2345335	chr4:158586162-158586163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576563240	chr4:158586204-158586205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377207960	chr4:158586205-158586206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139288429	chr4:158586212-158586213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144316868	chr4:158586223-158586224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574339034	chr4:158586260-158586261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541767598	chr4:158586277-158586278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561568966	chr4:158586278-158586279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs5863285	chr4:158586297-158586298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs397880163	chr4:158586298-158586299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551870664	chr4:158586313-158586314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79110379	chr4:158586316-158586317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146533158	chr4:158586351-158586352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1387985	chr4:158586372-158586373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572445149	chr4:158586379-158586380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532669451	chr4:158586399-158586400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550793641	chr4:158586433-158586434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370519290	chr4:158586492-158586493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374586243	chr4:158586493-158586494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs68041602	chr4:158586494-158586495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373355570	chr4:158586508-158586509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142519382	chr4:158586509-158586510	Enhancers	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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158585400-158586600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:158585600-158586000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:158585600-158586800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:158586200-158586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:158592200-158595000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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