Variant report

Variant	nsv946558
Chromosome Location	chr1:186971209-186989159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186980190..186980765-chr1:187011337..187012327,2	MCF-7	breast:
2	chr1:186970460..186971229-chr7:121222077..121222895,2	MCF-7	breast:
3	chr1:186984649..186986416-chr1:187005406..187007945,2	MCF-7	breast:

Extended variants
information (count: 449 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535371577	chr1:186971230-186971231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578181538	chr1:186971249-186971250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545426595	chr1:186971264-186971265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557192855	chr1:186971282-186971283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs193124836	chr1:186971296-186971297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185762186	chr1:186971354-186971355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34494890	chr1:186971487-186971488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542815510	chr1:186971491-186971492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561019602	chr1:186971517-186971518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111878162	chr1:186971518-186971519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540599228	chr1:186971551-186971552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79612814	chr1:186971573-186971574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532425900	chr1:186971636-186971637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35569842	chr1:186971662-186971663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550559339	chr1:186971715-186971716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111873091	chr1:186971776-186971777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569174750	chr1:186971781-186971782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116405827	chr1:186971813-186971814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548417931	chr1:186971842-186971843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566559148	chr1:186971849-186971850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376869044	chr1:186971876-186971877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72714398	chr1:186971950-186971951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549505228	chr1:186971982-186971983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539005360	chr1:186972037-186972038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570395149	chr1:186972063-186972064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190240275	chr1:186972092-186972093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193162230	chr1:186972105-186972106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372519847	chr1:186972106-186972107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557371055	chr1:186972121-186972122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369453092	chr1:186972131-186972132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115196974	chr1:186972135-186972136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572996851	chr1:186972141-186972142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540412356	chr1:186972233-186972234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565386991	chr1:186972302-186972303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184184975	chr1:186972347-186972348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544613410	chr1:186972354-186972355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12048628	chr1:186972355-186972356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs148755644	chr1:186972387-186972388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34538215	chr1:186972449-186972450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139412095	chr1:186972450-186972451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548385467	chr1:186972458-186972459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145228738	chr1:186972476-186972477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147624568	chr1:186972543-186972544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142254834	chr1:186972562-186972563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570531537	chr1:186972611-186972612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188738833	chr1:186972619-186972620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181174775	chr1:186972671-186972672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569185475	chr1:186972691-186972692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185216829	chr1:186972713-186972714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553436902	chr1:186972714-186972715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Schizophrenia	19197363	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186969000-186975400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:186969800-186971400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:186969800-186971600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:186969800-186971600	Enhancers	NHDF-Ad	bronchial
5	chr1:186970000-186971600	Enhancers	NH-A	brain
6	chr1:186970000-186971800	Enhancers	Hela-S3	cervix
7	chr1:186970200-186971400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:186970200-186971600	Enhancers	HMEC	breast
9	chr1:186970400-186971400	Enhancers	NHLF	lung
10	chr1:186970400-186971600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:186970800-186971600	Enhancers	NHEK	skin
12	chr1:186971200-186971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:186971400-186972600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:186971600-186972600	Weak transcription	NHDF-Ad	bronchial
15	chr1:186971600-186975800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:186971600-186976000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:186972600-186972800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:186972600-186973000	Enhancers	NHDF-Ad	bronchial
19	chr1:186975400-186975600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:186975400-186975800	ZNF genes & repeats	Pancreas	Pancrea
21	chr1:186975800-186976400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:186975800-186976800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr1:186976000-186976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:186976000-186976600	Enhancers	NHEK	skin
25	chr1:186976200-186977000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr1:186976400-186977000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:186976600-186979200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:186976600-186979400	Weak transcription	NHEK	skin
29	chr1:186978400-186980200	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:186978600-186981000	Enhancers	Hela-S3	cervix
31	chr1:186978800-186979400	Weak transcription	HMEC	breast
32	chr1:186979200-186979600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:186979200-186980000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:186979200-186980200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr1:186979400-186980000	Enhancers	NHEK	skin
36	chr1:186979400-186980200	Enhancers	HUVEC	blood vessel
37	chr1:186979600-186979800	Enhancers	HMEC	breast
38	chr1:186979600-186980000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:186981600-186982800	Weak transcription	HMEC	breast
40	chr1:186981800-186983400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:186982600-186983200	Enhancers	Osteobl	bone
42	chr1:186983000-186983200	Enhancers	HMEC	breast
43	chr1:186983000-186983600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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