Variant report

Variant	nsv594809
Chromosome Location	chr4:90123667-90132470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:90127520..90129072-chr4:90132638..90135404,2	MCF-7	breast:
2	chr4:90126009..90128526-chr4:90130052..90132165,2	K562	blood:
3	chr4:90126009..90128526-chr4:90130052..90132165,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIGD2-5	chr4:90124197-90124233	NONHSAT097385

Extended variants
information (count: 370 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6821473	chr4:90123667-90123668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs180964182	chr4:90123726-90123727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116186488	chr4:90123729-90123730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367723132	chr4:90123749-90123750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372338193	chr4:90123773-90123774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11940451	chr4:90123790-90123791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185387195	chr4:90123815-90123816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565883013	chr4:90123816-90123817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556390094	chr4:90123851-90123852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536224891	chr4:90123863-90123864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554578426	chr4:90123871-90123872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6821885	chr4:90123877-90123878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115167142	chr4:90123881-90123882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558422395	chr4:90123896-90123897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576979127	chr4:90123931-90123932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2195754	chr4:90123947-90123948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559466731	chr4:90124009-90124010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372081443	chr4:90124013-90124014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188738876	chr4:90124047-90124048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2195755	chr4:90124057-90124058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181702195	chr4:90124064-90124065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548010748	chr4:90124083-90124084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371552174	chr4:90124088-90124089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550457880	chr4:90124154-90124155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565479227	chr4:90124182-90124183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532738471	chr4:90124189-90124190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547613976	chr4:90124198-90124199	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs6822518	chr4:90124260-90124261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536362908	chr4:90124276-90124277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548152948	chr4:90124298-90124299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13117235	chr4:90124387-90124388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114291385	chr4:90124394-90124395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150104160	chr4:90124408-90124409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186825788	chr4:90124464-90124465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs16996178	chr4:90124467-90124468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs372316654	chr4:90124531-90124532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs693575	chr4:90124558-90124559	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs191592934	chr4:90124563-90124564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530401021	chr4:90124593-90124594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183942225	chr4:90124620-90124621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186489189	chr4:90124631-90124632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570367627	chr4:90124642-90124643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs693664	chr4:90124643-90124644	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs695053	chr4:90124654-90124655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs545526660	chr4:90124678-90124679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565551439	chr4:90124846-90124847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72869823	chr4:90124847-90124848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs80007183	chr4:90124852-90124853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559545567	chr4:90124912-90124913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530091583	chr4:90124972-90124973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90117800-90127800	Weak transcription	Pancreas	Pancrea
2	chr4:90122000-90125200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:90124200-90125000	Enhancers	Gastric	stomach
4	chr4:90125000-90127200	Enhancers	Hela-S3	cervix
5	chr4:90125200-90125400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:90125400-90126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:90125800-90126400	Enhancers	A549	lung
8	chr4:90126000-90126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:90126400-90127000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:90127800-90128000	ZNF genes & repeats	Pancreas	Pancrea
11	chr4:90128000-90142400	Weak transcription	Pancreas	Pancrea
12	chr4:90132400-90132600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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