Variant report

Variant	nsv521019
Chromosome Location	chr1:217228116-217229674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7532636	chr1:217228116-217228117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564732377	chr1:217228119-217228120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558775095	chr1:217228121-217228122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78463119	chr1:217228165-217228166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185964110	chr1:217228176-217228177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536820564	chr1:217228186-217228187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544360813	chr1:217228244-217228245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547261234	chr1:217228364-217228365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562860238	chr1:217228373-217228374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369899931	chr1:217228426-217228427	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs538764349	chr1:217228440-217228441	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs558863817	chr1:217228442-217228443	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs75997525	chr1:217228449-217228450	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs191192070	chr1:217228461-217228462	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs149851852	chr1:217228491-217228492	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs145844985	chr1:217228505-217228506	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs140685537	chr1:217228510-217228511	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs375721027	chr1:217228572-217228573	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs559134190	chr1:217228592-217228593	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs575049897	chr1:217228626-217228627	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs572558307	chr1:217228632-217228633	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs180875070	chr1:217228697-217228698	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs564864561	chr1:217228701-217228702	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs75691422	chr1:217228789-217228790	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs144395121	chr1:217228841-217228842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561564861	chr1:217228845-217228846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6682402	chr1:217228872-217228873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186526252	chr1:217228913-217228914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375726208	chr1:217228924-217228925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146585224	chr1:217228925-217228926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370247082	chr1:217229036-217229037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574226622	chr1:217229077-217229078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569365436	chr1:217229083-217229084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537826523	chr1:217229084-217229085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554586874	chr1:217229087-217229088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10582231	chr1:217229094-217229095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398053820	chr1:217229096-217229097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190974365	chr1:217229109-217229110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11572409	chr1:217229132-217229133	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs536146299	chr1:217229167-217229168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11572408	chr1:217229299-217229300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572969141	chr1:217229310-217229311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545223671	chr1:217229314-217229315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79029334	chr1:217229331-217229332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544218298	chr1:217229379-217229380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552195688	chr1:217229473-217229474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560876938	chr1:217229532-217229533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527822761	chr1:217229542-217229543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11572407	chr1:217229573-217229574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs148304888	chr1:217229575-217229576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:217221800-217251400	Weak transcription	Left Ventricle	heart
3	chr1:217223200-217250000	Weak transcription	Psoas Muscle	Psoas
4	chr1:217226400-217235000	Weak transcription	Fetal Kidney	kidney
5	chr1:217226800-217228400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:217227000-217228200	Enhancers	Fetal Heart	heart
7	chr1:217227200-217228400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:217227800-217231200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:217228200-217229200	Weak transcription	Fetal Heart	heart
10	chr1:217228400-217228800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:217228800-217229600	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:217229200-217230600	Enhancers	Fetal Heart	heart

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