Variant report

Variant	nsv528915
Chromosome Location	chr1:175735380-175739003
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	chr1:175732717..175735663-chr1:175737285..175738902,2	MCF-7	breast:
2	chr1:175732717..175735663-chr1:175737285..175738902,2	MCF-7	breast:

Extended variants
information (count: 159 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs6659350	chr1:175735380-175735381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575670114	chr1:175735420-175735421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530181551	chr1:175735451-175735452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182973246	chr1:175735457-175735458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141313284	chr1:175735533-175735534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145101667	chr1:175735538-175735539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552578539	chr1:175735549-175735550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558911694	chr1:175735600-175735601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528046369	chr1:175735667-175735668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6693176	chr1:175735710-175735711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187347953	chr1:175735733-175735734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537848816	chr1:175735784-175735785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538613961	chr1:175735807-175735808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138985898	chr1:175735831-175735832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116655718	chr1:175735868-175735869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10913076	chr1:175735923-175735924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201515573	chr1:175735931-175735932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199636693	chr1:175735932-175735933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200491860	chr1:175735933-175735934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201270612	chr1:175735935-175735936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573467884	chr1:175735983-175735984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535812647	chr1:175735999-175736000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555492795	chr1:175736023-175736024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76539953	chr1:175736025-175736026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375579367	chr1:175736033-175736034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556733256	chr1:175736038-175736039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576666839	chr1:175736043-175736044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545600533	chr1:175736044-175736045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559172956	chr1:175736049-175736050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150483148	chr1:175736085-175736086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541777935	chr1:175736114-175736115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561564556	chr1:175736121-175736122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530608635	chr1:175736137-175736138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550743803	chr1:175736187-175736188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571049175	chr1:175736203-175736204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191849872	chr1:175736205-175736206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76298961	chr1:175736261-175736262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548704997	chr1:175736305-175736306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567118957	chr1:175736309-175736310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535806113	chr1:175736404-175736405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369711002	chr1:175736533-175736534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1883337	chr1:175736550-175736551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs182804879	chr1:175736598-175736599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75735392	chr1:175736611-175736612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78556649	chr1:175736619-175736620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187875186	chr1:175736634-175736635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144480041	chr1:175736635-175736636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576119768	chr1:175736643-175736644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552910976	chr1:175736674-175736675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573079151	chr1:175736684-175736685	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
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	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
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175701400-175738400	Weak transcription	Right Atrium	heart
2	chr1:175720000-175744200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:175722400-175737200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:175735200-175735800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:175737000-175738600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:175737200-175738000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:175738000-175738200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links