Variant report

Variant	nsv528759
Chromosome Location	chr7:18881509-18882203
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	chr7:18882137..18885083-chr7:18886312..18888686,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13230142	chr7:18881509-18881510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550634885	chr7:18881522-18881523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375479995	chr7:18881528-18881529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145300987	chr7:18881573-18881574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547946794	chr7:18881579-18881580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533340725	chr7:18881581-18881582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147602029	chr7:18881642-18881643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186593793	chr7:18881655-18881656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139592827	chr7:18881663-18881664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114283346	chr7:18881666-18881667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117017438	chr7:18881685-18881686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537955666	chr7:18881693-18881694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191809206	chr7:18881728-18881729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80029535	chr7:18881761-18881762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34701084	chr7:18881772-18881773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544873857	chr7:18881804-18881805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183585839	chr7:18881822-18881823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572262620	chr7:18881831-18881832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78396743	chr7:18881832-18881833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34271373	chr7:18881843-18881844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561771862	chr7:18881848-18881849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529231885	chr7:18881850-18881851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188188328	chr7:18881875-18881876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192732455	chr7:18881876-18881877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533613692	chr7:18881940-18881941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551690846	chr7:18881980-18881981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537303588	chr7:18882055-18882056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572746198	chr7:18882117-18882118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573682585	chr7:18882167-18882168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369880761	chr7:18882178-18882179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527997432	chr7:18882191-18882192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12056282	chr7:18882203-18882204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:87)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18866800-18885200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:18867200-18882400	Weak transcription	Left Ventricle	heart
3	chr7:18868800-18887400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:18875600-18888000	Weak transcription	Aorta	Aorta

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