Variant report

Variant	nsv824022
Chromosome Location	chr7:19576173-19577321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567577168	chr7:19576182-19576183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549783589	chr7:19576219-19576220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368427284	chr7:19576270-19576271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538104600	chr7:19576276-19576277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151272250	chr7:19576314-19576315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571447302	chr7:19576342-19576343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539958539	chr7:19576371-19576372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73687895	chr7:19576409-19576410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557963952	chr7:19576437-19576438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77350808	chr7:19576460-19576461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140524215	chr7:19576474-19576475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150430511	chr7:19576497-19576498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574007933	chr7:19576503-19576504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113897269	chr7:19576515-19576516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376461842	chr7:19576561-19576562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536149641	chr7:19576590-19576591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544473614	chr7:19576627-19576628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562769235	chr7:19576645-19576646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528323661	chr7:19576658-19576659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138182029	chr7:19576698-19576699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11505420	chr7:19576701-19576702	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559994682	chr7:19576726-19576727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527340257	chr7:19576735-19576736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141236426	chr7:19576780-19576781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534821378	chr7:19576811-19576812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1008704	chr7:19576825-19576826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577692336	chr7:19576831-19576832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535025828	chr7:19576854-19576855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370486438	chr7:19576864-19576865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571463819	chr7:19576890-19576891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556927500	chr7:19576910-19576911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113212772	chr7:19576919-19576920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1985774	chr7:19576929-19576930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs566859277	chr7:19576935-19576936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570351188	chr7:19576957-19576958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377523247	chr7:19576958-19576959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373022748	chr7:19576967-19576968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371850541	chr7:19576983-19576984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555362307	chr7:19576995-19576996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377358022	chr7:19577019-19577020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573675611	chr7:19577027-19577028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538181463	chr7:19577034-19577035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374562224	chr7:19577036-19577037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553114986	chr7:19577038-19577039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556430309	chr7:19577058-19577059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111309602	chr7:19577081-19577082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560702531	chr7:19577091-19577092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572069187	chr7:19577099-19577100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181300048	chr7:19577118-19577119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560902764	chr7:19577122-19577123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19563400-19577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:19574400-19577200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:19574600-19577200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:19575800-19577200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:19576800-19578400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:19577200-19577400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:19577200-19577400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:19577200-19577400	Enhancers	Brain Anterior Caudate	brain
9	chr7:19577200-19577400	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:19577200-19577600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:19577200-19577600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:19577200-19577600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:19577200-19577800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr7:19577200-19578000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:19577200-19578000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:19577200-19578000	Enhancers	Colon Smooth Muscle	Colon
17	chr7:19577200-19578000	Active TSS	Osteobl	bone

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