Variant report

Variant	nsv518732
Chromosome Location	chr1:215398012-215402022
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	chr1:215398980..215400593-chr1:215403515..215406240,2	MCF-7	breast:
2	chr1:215396676..215399240-chr3:64135650..64138383,2	MCF-7	breast:

Extended variants
information (count: 151 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs6540886	chr1:215398012-215398013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575875853	chr1:215398035-215398036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80020580	chr1:215398078-215398079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138840016	chr1:215398085-215398086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548330253	chr1:215398110-215398111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573261847	chr1:215398116-215398117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542318198	chr1:215398142-215398143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142781421	chr1:215398161-215398162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528289084	chr1:215398183-215398184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561735645	chr1:215398207-215398208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551538055	chr1:215398223-215398224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6663635	chr1:215398276-215398277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530535238	chr1:215398283-215398284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59173301	chr1:215398330-215398331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530829158	chr1:215398414-215398415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146983297	chr1:215398453-215398454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368495622	chr1:215398487-215398488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55750248	chr1:215398566-215398567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371011405	chr1:215398635-215398636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11120522	chr1:215398647-215398648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186810366	chr1:215398665-215398666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367992848	chr1:215398676-215398677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538892958	chr1:215398717-215398718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559104428	chr1:215398735-215398736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540168770	chr1:215398767-215398768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112090057	chr1:215398848-215398849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538160417	chr1:215398864-215398865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10864164	chr1:215398894-215398895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138002775	chr1:215398914-215398915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542179886	chr1:215398938-215398939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559217729	chr1:215398989-215398990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572872014	chr1:215399010-215399011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571148482	chr1:215399027-215399028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544919545	chr1:215399028-215399029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565078952	chr1:215399057-215399058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554878745	chr1:215399108-215399109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566494595	chr1:215399110-215399111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530681691	chr1:215399125-215399126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533732512	chr1:215399156-215399157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35770713	chr1:215399163-215399164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149479328	chr1:215399177-215399178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561134254	chr1:215399184-215399185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558691445	chr1:215399197-215399198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143886041	chr1:215399201-215399202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576920241	chr1:215399205-215399206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537538569	chr1:215399250-215399251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559865310	chr1:215399285-215399286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556754245	chr1:215399342-215399343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566901323	chr1:215399496-215399497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148603615	chr1:215399538-215399539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215380600-215408000	Weak transcription	Osteobl	bone
2	chr1:215388600-215408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:215389200-215401400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:215392000-215408000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:215394000-215407800	Weak transcription	NHDF-Ad	bronchial
6	chr1:215400000-215400200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:215400400-215401400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:215401400-215401600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:215401400-215401800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:215401400-215402000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr1:215401400-215402000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:215401600-215401800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr1:215401800-215402000	Enhancers	H1 Cell Line	embryonic stem cell

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