Variant report

Variant	nsv527715
Chromosome Location	chr1:215396543-215402022
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: 198 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs12080135	chr1:215396543-215396544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189088161	chr1:215396567-215396568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529709650	chr1:215396585-215396586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56890763	chr1:215396604-215396605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66534065	chr1:215396605-215396606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375213417	chr1:215396606-215396607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532895017	chr1:215396618-215396619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549633273	chr1:215396675-215396676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575257753	chr1:215396711-215396712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569380644	chr1:215396726-215396727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530468059	chr1:215396780-215396781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529090267	chr1:215396787-215396788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548746465	chr1:215396809-215396810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148081305	chr1:215396852-215396853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534605460	chr1:215396871-215396872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541384805	chr1:215396874-215396875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571552598	chr1:215396881-215396882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542104472	chr1:215396893-215396894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537423567	chr1:215396988-215396989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557506070	chr1:215397062-215397063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574164920	chr1:215397100-215397101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543269425	chr1:215397150-215397151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76027383	chr1:215397216-215397217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573617545	chr1:215397238-215397239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371929086	chr1:215397285-215397286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545383453	chr1:215397319-215397320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548773218	chr1:215397414-215397415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563251961	chr1:215397429-215397430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61819678	chr1:215397446-215397447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374695903	chr1:215397463-215397464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543392443	chr1:215397483-215397484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563071598	chr1:215397504-215397505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140895148	chr1:215397523-215397524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565549495	chr1:215397585-215397586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545774232	chr1:215397590-215397591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146091528	chr1:215397597-215397598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111753032	chr1:215397602-215397603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184695359	chr1:215397629-215397630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189333913	chr1:215397672-215397673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557367697	chr1:215397740-215397741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567804711	chr1:215397799-215397800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536732986	chr1:215397873-215397874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559540619	chr1:215397874-215397875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181393754	chr1:215397876-215397877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201566432	chr1:215397900-215397901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573381721	chr1:215397927-215397928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539190432	chr1:215397947-215397948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6540886	chr1:215398012-215398013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs575875853	chr1:215398035-215398036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80020580	chr1:215398078-215398079	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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