Variant report

Variant	esv2615149
Chromosome Location	chr1:171985964-171987471
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	chr1:171984516..171987381-chr1:172008713..172010254,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56155736	chr1:171986003-171986004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12091784	chr1:171986061-171986062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147846058	chr1:171986153-171986154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572712447	chr1:171986166-171986167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191317506	chr1:171986167-171986168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12090753	chr1:171986205-171986206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573660038	chr1:171986372-171986373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543937998	chr1:171986466-171986467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2104037	chr1:171986487-171986488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs531057481	chr1:171986563-171986564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546079075	chr1:171986573-171986574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546041400	chr1:171986580-171986581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564816442	chr1:171986601-171986602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528447583	chr1:171986668-171986669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546949061	chr1:171986705-171986706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183231945	chr1:171986731-171986732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72719040	chr1:171986741-171986742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561123383	chr1:171986756-171986757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531317937	chr1:171986776-171986777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551140095	chr1:171986778-171986779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79157112	chr1:171986787-171986788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35304050	chr1:171986829-171986830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187668091	chr1:171986858-171986859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541863979	chr1:171986861-171986862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558051974	chr1:171986881-171986882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192157795	chr1:171986895-171986896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533873339	chr1:171986900-171986901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184370274	chr1:171986914-171986915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76533423	chr1:171986929-171986930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369585961	chr1:171986935-171986936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561691236	chr1:171986950-171986951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139693903	chr1:171986971-171986972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543900347	chr1:171987104-171987105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187943250	chr1:171987139-171987140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575398721	chr1:171987290-171987291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117062943	chr1:171987382-171987383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527248048	chr1:171987413-171987414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145205916	chr1:171987461-171987462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	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
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171980800-171993600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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