Variant report

Variant	nsv964302
Chromosome Location	chr4:99143973-99156094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99134719..99136619-chr4:99142724..99145033,2	K562	blood:
2	chr1:6706577..6707089-chr4:99143310..99144015,2	MCF-7	breast:
3	chr4:99153861..99155781-chr4:99155970..99158168,2	K562	blood:
4	chr4:99153861..99155781-chr4:99155970..99158168,2	K562	blood:

Extended variants
information (count: 185 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72900388	chr4:99147419-99147420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7692392	chr4:99147521-99147522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4699333	chr4:99147530-99147531	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576011828	chr4:99147584-99147585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539349239	chr4:99147642-99147643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561116138	chr4:99147649-99147650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528531011	chr4:99147661-99147662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540347061	chr4:99147663-99147664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12500121	chr4:99147668-99147669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565069487	chr4:99147673-99147674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532925464	chr4:99147702-99147703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4699334	chr4:99147705-99147706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569571548	chr4:99147725-99147726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530726354	chr4:99147777-99147778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549302751	chr4:99147784-99147785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183970654	chr4:99147800-99147801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150064182	chr4:99147854-99147855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2866006	chr4:99147896-99147897	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371921804	chr4:99147923-99147924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375642600	chr4:99147924-99147925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144366151	chr4:99147937-99147938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200506236	chr4:99147948-99147949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59607458	chr4:99147953-99147954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3048362	chr4:99147956-99147957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78767302	chr4:99147999-99148000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557595679	chr4:99148041-99148042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148723355	chr4:99148132-99148133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542946942	chr4:99148162-99148163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555268919	chr4:99148262-99148263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2866007	chr4:99148266-99148267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573137296	chr4:99148299-99148300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188645995	chr4:99148331-99148332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142255510	chr4:99148336-99148337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4699617	chr4:99148375-99148376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs544766946	chr4:99148388-99148389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564573534	chr4:99148424-99148425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564191194	chr4:99148436-99148437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563135859	chr4:99148449-99148450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576901042	chr4:99148472-99148473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377049722	chr4:99148473-99148474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71588946	chr4:99148474-99148475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs137921086	chr4:99148480-99148481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557247382	chr4:99148513-99148514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530781206	chr4:99148575-99148576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147913053	chr4:99148585-99148586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561272064	chr4:99148630-99148631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528041446	chr4:99148650-99148651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72900390	chr4:99148797-99148798	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200032023	chr4:99151822-99151823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145216046	chr4:99151870-99151871	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
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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	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
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Bipolar disorder	19114987	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99147400-99148800	Enhancers	Liver	Liver
2	chr4:99151800-99153000	Enhancers	Fetal Brain Male	brain
3	chr4:99152400-99154400	Enhancers	Dnd41	blood
4	chr4:99153000-99153800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:99153400-99153800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:99153400-99153800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:99153400-99153800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:99153400-99153800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:99153600-99153800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:99153800-99163000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:99154400-99158000	Weak transcription	Dnd41	blood

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