Variant report

Variant	nsv1002048
Chromosome Location	chr4:22044637-22070701
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	chr4:22045762..22048489-chr4:22082694..22085288,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PACRGL-5	chr4:22060696-22060983	ENSG00000250039.2
2	lnc-PACRGL-5	chr4:22060707-22060983	ENSG00000250039.3

Extended variants
information (count: 517 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149518283	chr4:22045276-22045277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543396165	chr4:22045280-22045281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577549638	chr4:22045290-22045291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185054458	chr4:22045315-22045316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386474150	chr4:22045372-22045373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116126471	chr4:22045429-22045430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542949841	chr4:22045442-22045443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138767802	chr4:22045467-22045468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528313349	chr4:22045468-22045469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190884781	chr4:22045520-22045521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559621129	chr4:22045583-22045584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6833673	chr4:22045629-22045630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113238586	chr4:22045667-22045668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551527119	chr4:22045684-22045685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558187541	chr4:22045728-22045729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570041633	chr4:22045752-22045753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34927464	chr4:22045780-22045781	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534921737	chr4:22045864-22045865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182597196	chr4:22045877-22045878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571300085	chr4:22045884-22045885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200998172	chr4:22045892-22045893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538617111	chr4:22045900-22045901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116757020	chr4:22045908-22045909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6839252	chr4:22045912-22045913	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13132801	chr4:22045936-22045937	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554940747	chr4:22045940-22045941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573055615	chr4:22045952-22045953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141808768	chr4:22045966-22045967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188159094	chr4:22045998-22045999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187612456	chr4:22046234-22046235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34196510	chr4:22046289-22046290	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370966928	chr4:22046324-22046325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557038853	chr4:22046328-22046329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568857899	chr4:22046339-22046340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146303302	chr4:22046340-22046341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192510988	chr4:22046358-22046359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573216502	chr4:22046363-22046364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185075088	chr4:22046382-22046383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114111518	chr4:22046419-22046420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78394502	chr4:22046421-22046422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114482860	chr4:22046461-22046462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563839448	chr4:22046467-22046468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187930000	chr4:22046475-22046476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542658060	chr4:22046515-22046516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11935477	chr4:22046518-22046519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528717523	chr4:22046540-22046541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34843622	chr4:22046541-22046542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565306408	chr4:22046542-22046543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532753265	chr4:22046543-22046544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550385721	chr4:22046616-22046617	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22045200-22046000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:22046200-22047400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:22059800-22066400	Weak transcription	Pancreas	Pancrea
4	chr4:22060800-22062200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:22062200-22063200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:22063200-22066400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:22066400-22066600	ZNF genes & repeats	Pancreas	Pancrea
8	chr4:22066400-22073200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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