Variant report

Variant	nsv966913
Chromosome Location	chr7:152467072-152473031
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	chr7:152456835..152459288-chr7:152471210..152473847,3	K562	blood:

Variant related genes	Relation type
ENSG00000133627	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1610278	chr7:152467095-152467096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557511664	chr7:152467285-152467286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2969807	chr7:152467363-152467364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111340377	chr7:152467380-152467381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201540986	chr7:152467415-152467416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530506575	chr7:152467441-152467442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148144024	chr7:152467442-152467443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200441076	chr7:152467504-152467505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558001455	chr7:152467530-152467531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60766326	chr7:152467553-152467554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573204684	chr7:152467649-152467650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540982426	chr7:152467667-152467668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559125213	chr7:152467674-152467675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529792456	chr7:152467683-152467684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541587582	chr7:152467695-152467696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149303365	chr7:152467718-152467719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530687536	chr7:152467730-152467731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552420278	chr7:152467768-152467769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570710300	chr7:152467797-152467798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374926188	chr7:152467805-152467806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200780113	chr7:152467812-152467813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202230954	chr7:152467868-152467869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71529546	chr7:152467869-152467870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202178807	chr7:152467871-152467872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62494303	chr7:152467877-152467878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71541783	chr7:152467892-152467893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564137872	chr7:152467912-152467913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528306973	chr7:152467956-152467957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71541784	chr7:152467957-152467958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568392473	chr7:152468008-152468009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185653998	chr7:152468015-152468016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564566262	chr7:152468061-152468062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546772332	chr7:152468079-152468080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112765291	chr7:152468080-152468081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190804506	chr7:152468147-152468148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539597795	chr7:152468216-152468217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557939941	chr7:152468252-152468253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550836215	chr7:152468294-152468295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573192343	chr7:152468295-152468296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540616289	chr7:152468304-152468305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2689511	chr7:152468317-152468318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552910268	chr7:152468327-152468328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569978007	chr7:152468368-152468369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62494304	chr7:152468382-152468383	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2462108	chr7:152468388-152468389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140298266	chr7:152468434-152468435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2689510	chr7:152468453-152468454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530622414	chr7:152468458-152468459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183022525	chr7:152468490-152468491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11971412	chr7:152468513-152468514	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152457800-152471000	Weak transcription	Gastric	stomach
2	chr7:152458800-152468200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:152459200-152472000	Weak transcription	K562	blood
4	chr7:152459400-152471600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:152459400-152472000	Weak transcription	GM12878-XiMat	blood
6	chr7:152463000-152467400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:152463600-152467800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:152463600-152467800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr7:152463600-152468200	Weak transcription	Fetal Brain Female	brain
10	chr7:152465000-152483400	Weak transcription	HSMMtube	muscle
11	chr7:152467400-152468600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr7:152467800-152468600	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:152467800-152468600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:152467800-152468600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr7:152468200-152468400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:152468200-152468400	Enhancers	Fetal Brain Female	brain
17	chr7:152468200-152468400	Enhancers	HepG2	liver
18	chr7:152468400-152470600	Weak transcription	HepG2	liver
19	chr7:152468600-152471800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr7:152468600-152472000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr7:152470600-152471000	Enhancers	HepG2	liver
22	chr7:152471600-152473000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:152471800-152473000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:152472000-152472400	Enhancers	GM12878-XiMat	blood
25	chr7:152472000-152472600	Enhancers	K562	blood
26	chr7:152472000-152472800	Enhancers	Primary monocytes fromperipheralblood	blood

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