Variant report

Variant	esv3463283
Chromosome Location	chr3:23088640-23092367
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	chr3:23076916..23078898-chr3:23091212..23094120,2	MCF-7	breast:

Extended variants
information (count: 134 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184917299	chr3:23088647-23088648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559606943	chr3:23088686-23088687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546059810	chr3:23088689-23088690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564344301	chr3:23088691-23088692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528645976	chr3:23088723-23088724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546867685	chr3:23088768-23088769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547056021	chr3:23088770-23088771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568194012	chr3:23088806-23088807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs141806037	chr3:23088808-23088809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs59887602	chr3:23088859-23088860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs150580024	chr3:23088868-23088869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539764012	chr3:23088889-23088890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558035426	chr3:23088936-23088937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189344569	chr3:23088976-23088977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140738559	chr3:23088983-23088984	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs555252072	chr3:23088989-23088990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs180919256	chr3:23088996-23088997	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183724056	chr3:23088997-23088998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142952952	chr3:23089026-23089027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs74719082	chr3:23089053-23089054	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs74964122	chr3:23089056-23089057	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76020593	chr3:23089058-23089059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs80017011	chr3:23089065-23089066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575194348	chr3:23089071-23089072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12053847	chr3:23089072-23089073	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564483066	chr3:23089078-23089079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200650518	chr3:23089105-23089106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189955510	chr3:23089154-23089155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544932660	chr3:23089155-23089156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs59611274	chr3:23089226-23089227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73145952	chr3:23089273-23089274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181264434	chr3:23089391-23089392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550664796	chr3:23089414-23089415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187129802	chr3:23089424-23089425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191623792	chr3:23089438-23089439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115231332	chr3:23089463-23089464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566788048	chr3:23089467-23089468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561292666	chr3:23089483-23089484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112106459	chr3:23089522-23089523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549178453	chr3:23089544-23089545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181376648	chr3:23089576-23089577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535948409	chr3:23089598-23089599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556995239	chr3:23089635-23089636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140024754	chr3:23089639-23089640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186358456	chr3:23089654-23089655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190758867	chr3:23089664-23089665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182320964	chr3:23089667-23089668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373152784	chr3:23089719-23089720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377067829	chr3:23089724-23089725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573514324	chr3:23089773-23089774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23084000-23088800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:23088800-23089200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:23089200-23096800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:23090600-23103800	Weak transcription	Aorta	Aorta

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