Variant report

Variant	nsv523887
Chromosome Location	chr7:103396604-103397404
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	chr7:103395352..103397889-chr7:103399126..103401362,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs579030	chr7:103396604-103396605	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs6964943	chr7:103396611-103396612	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3819476	chr7:103396639-103396640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs3819477	chr7:103396663-103396664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs650974	chr7:103396683-103396684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191684464	chr7:103396691-103396692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138160252	chr7:103396692-103396693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149553049	chr7:103396705-103396706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184188803	chr7:103396729-103396730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556371672	chr7:103396736-103396737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559900987	chr7:103396746-103396747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577734699	chr7:103396751-103396752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545303611	chr7:103396776-103396777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572770332	chr7:103396786-103396787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560148744	chr7:103396791-103396792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527572480	chr7:103396796-103396797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527285877	chr7:103396829-103396830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144223228	chr7:103396841-103396842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186634292	chr7:103396853-103396854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531292470	chr7:103396896-103396897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148389353	chr7:103396920-103396921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139739352	chr7:103396973-103396974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569447055	chr7:103397026-103397027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533322247	chr7:103397064-103397065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111385204	chr7:103397080-103397081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3819479	chr7:103397082-103397083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567047085	chr7:103397120-103397121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73412825	chr7:103397141-103397142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370289383	chr7:103397179-103397180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555781491	chr7:103397180-103397181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200863160	chr7:103397204-103397205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10683870	chr7:103397205-103397206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34060736	chr7:103397206-103397207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10652920	chr7:103397208-103397209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540839582	chr7:103397237-103397238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192276902	chr7:103397248-103397249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74321469	chr7:103397319-103397320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28517664	chr7:103397325-103397326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577777572	chr7:103397331-103397332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4446675	chr7:103397333-103397334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550016230	chr7:103397354-103397355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs475880	chr7:103397373-103397374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572242474	chr7:103397398-103397399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs694894	chr7:103397404-103397405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103390000-103434000	Weak transcription	K562	blood
2	chr7:103393400-103405400	Weak transcription	HepG2	liver

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