Variant report

Variant	nsv966730
Chromosome Location	chr7:117901893-117906091
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:117893799..117896241-chr7:117904650..117906874,2	K562	blood:
2	chr7:117898898..117901210-chr7:117904773..117907240,2	K562	blood:
3	chr7:117896836..117898493-chr7:117900097..117902043,2	K562	blood:

Extended variants
information (count: 143 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201602641	chr7:117901898-117901899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531423765	chr7:117901929-117901930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543094563	chr7:117902006-117902007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534367888	chr7:117902020-117902021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150785535	chr7:117902090-117902091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139203840	chr7:117902146-117902147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149341094	chr7:117902183-117902184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566747522	chr7:117902195-117902196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144691092	chr7:117902206-117902207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11381918	chr7:117902222-117902223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552339181	chr7:117902228-117902229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397791211	chr7:117902230-117902231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570898690	chr7:117902258-117902259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538334067	chr7:117902260-117902261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190119316	chr7:117902325-117902326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538349633	chr7:117902348-117902349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535769748	chr7:117902353-117902354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558561341	chr7:117902425-117902426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374839936	chr7:117902433-117902434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554135915	chr7:117902461-117902462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572352897	chr7:117902501-117902502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192756370	chr7:117902520-117902521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546058803	chr7:117902584-117902585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs41910	chr7:117902614-117902615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs115514967	chr7:117902668-117902669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543461707	chr7:117902744-117902745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184096260	chr7:117902749-117902750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148515672	chr7:117902792-117902793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540603941	chr7:117902808-117902809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560449380	chr7:117902818-117902819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532900539	chr7:117902827-117902828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527970821	chr7:117902877-117902878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73483440	chr7:117902888-117902889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570978963	chr7:117902903-117902904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368275787	chr7:117902923-117902924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373249673	chr7:117902940-117902941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550219862	chr7:117902962-117902963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568439090	chr7:117902966-117902967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537749490	chr7:117902967-117902968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs41911	chr7:117902987-117902988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs574309893	chr7:117903061-117903062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539306541	chr7:117903067-117903068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547801990	chr7:117903133-117903134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146589473	chr7:117903141-117903142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539695180	chr7:117903143-117903144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557674313	chr7:117903168-117903169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576155410	chr7:117903188-117903189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554212129	chr7:117903209-117903210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540457252	chr7:117903256-117903257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536770928	chr7:117903259-117903260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117901200-117904200	Weak transcription	Dnd41	blood
2	chr7:117904200-117905600	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links