Variant report

Variant	nsv519518
Chromosome Location	chr7:25573539-25578946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:25574332..25576618-chr7:25582148..25584202,2	K562	blood:
2	chr7:25575983..25577783-chr7:25577982..25580793,2	K562	blood:
3	chr7:25575983..25577783-chr7:25577982..25580793,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:199 , 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	rs4722480	chr7:25573539-25573540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554311623	chr7:25573555-25573556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2952516	chr7:25573601-25573602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533265803	chr7:25573646-25573647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542827227	chr7:25573664-25573665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562731062	chr7:25573691-25573692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200359205	chr7:25573730-25573731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118021292	chr7:25573775-25573776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140474185	chr7:25573776-25573777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55840269	chr7:25573778-25573779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187187567	chr7:25573809-25573810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368533865	chr7:25573898-25573899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144531923	chr7:25573899-25573900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147838829	chr7:25573968-25573969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116847267	chr7:25574086-25574087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569457474	chr7:25574087-25574088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538123555	chr7:25574103-25574104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552061375	chr7:25574108-25574109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116297876	chr7:25574130-25574131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534182263	chr7:25574175-25574176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs981903	chr7:25574197-25574198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4512298	chr7:25574210-25574211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558893527	chr7:25574239-25574240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574160462	chr7:25574251-25574252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536764846	chr7:25574292-25574293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528089736	chr7:25574301-25574302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs190084934	chr7:25574308-25574309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576192514	chr7:25574419-25574420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148824053	chr7:25574518-25574519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565846211	chr7:25574542-25574543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143442941	chr7:25574544-25574545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150967836	chr7:25574574-25574575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540611785	chr7:25574600-25574601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560581276	chr7:25574614-25574615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529714520	chr7:25574616-25574617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73275600	chr7:25574673-25574674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562901203	chr7:25574754-25574755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531937751	chr7:25574787-25574788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551734499	chr7:25574853-25574854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182658331	chr7:25574854-25574855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377102980	chr7:25574874-25574875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571320734	chr7:25574879-25574880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545415484	chr7:25574881-25574882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113979933	chr7:25574908-25574909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547783851	chr7:25574911-25574912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369480774	chr7:25574989-25574990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188575005	chr7:25575002-25575003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567678110	chr7:25575003-25575004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536702861	chr7:25575012-25575013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560274932	chr7:25575033-25575034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Melanoma	18172304	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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:25569200-25584800	Weak transcription	Esophagus	oesophagus
2	chr7:25569800-25574800	Weak transcription	Spleen	Spleen
3	chr7:25573400-25574800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:25574200-25575400	Enhancers	Fetal Stomach	stomach
5	chr7:25574400-25575400	Enhancers	Ovary	ovary
6	chr7:25574600-25575200	Enhancers	Fetal Lung	lung
7	chr7:25574800-25575000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:25574800-25575200	Enhancers	Spleen	Spleen
9	chr7:25575200-25576400	Weak transcription	Fetal Lung	lung
10	chr7:25575200-25578800	Weak transcription	Spleen	Spleen
11	chr7:25575400-25575800	Weak transcription	Fetal Stomach	stomach
12	chr7:25575400-25580200	Weak transcription	Ovary	ovary
13	chr7:25575800-25577800	Enhancers	Fetal Stomach	stomach
14	chr7:25576400-25577400	Enhancers	Fetal Lung	lung
15	chr7:25576400-25578800	Enhancers	Stomach Smooth Muscle	stomach
16	chr7:25577200-25577400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr7:25577200-25577800	Enhancers	Aorta	Aorta
18	chr7:25577200-25579400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:25577400-25581200	Weak transcription	Fetal Lung	lung
20	chr7:25577600-25578600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:25577800-25578400	Weak transcription	Fetal Stomach	stomach
22	chr7:25578400-25578600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:25578400-25579200	Enhancers	Fetal Stomach	stomach
24	chr7:25578600-25579200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:25578600-25579200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:25578800-25579200	Enhancers	Primary T cells from cord blood	blood
27	chr7:25578800-25579200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:25578800-25579400	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links