Variant report

Variant	esv17533
Chromosome Location	chr2:10676296-10676974
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	chr2:10579413..10581262-chr2:10676249..10678549,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13012907	chr2:10676309-10676310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113316300	chr2:10676315-10676316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35030402	chr2:10676317-10676318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34461664	chr2:10676320-10676321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113079373	chr2:10676336-10676337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201455898	chr2:10676341-10676342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142531118	chr2:10676342-10676343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111967248	chr2:10676347-10676348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35403783	chr2:10676363-10676364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369880442	chr2:10676365-10676366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34353663	chr2:10676368-10676369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112581693	chr2:10676369-10676370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34615377	chr2:10676371-10676372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34140386	chr2:10676374-10676375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77638375	chr2:10676390-10676391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35657816	chr2:10676395-10676396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112272860	chr2:10676396-10676397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144188321	chr2:10676398-10676399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112923568	chr2:10676401-10676402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74775323	chr2:10676417-10676418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34317425	chr2:10676422-10676423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201903848	chr2:10676427-10676428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111364361	chr2:10676428-10676429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76028481	chr2:10676444-10676445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111597708	chr2:10676446-10676447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80038244	chr2:10676449-10676450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74171481	chr2:10676450-10676451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74171482	chr2:10676452-10676453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201445987	chr2:10676455-10676456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34767578	chr2:10676471-10676472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs70948901	chr2:10676477-10676478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367817401	chr2:10676482-10676483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35365706	chr2:10676498-10676499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145301924	chr2:10676504-10676505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35502464	chr2:10676509-10676510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35177401	chr2:10676525-10676526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74171486	chr2:10676527-10676528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188075816	chr2:10676536-10676537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35886944	chr2:10676538-10676539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111806329	chr2:10676550-10676551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113103530	chr2:10676552-10676553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74185787	chr2:10676559-10676560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113612108	chr2:10676587-10676588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145501350	chr2:10676610-10676611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184169648	chr2:10676614-10676615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113856212	chr2:10676632-10676633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74200949	chr2:10676637-10676638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113690441	chr2:10676643-10676644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112112591	chr2:10676659-10676660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35082465	chr2:10676664-10676665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923524	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10672400-10679800	Weak transcription	K562	blood
2	chr2:10673000-10677200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:10674600-10678600	Weak transcription	Hela-S3	cervix
4	chr2:10674800-10677000	Weak transcription	HSMM	muscle
5	chr2:10675000-10676400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:10675200-10682000	Weak transcription	NH-A	brain
7	chr2:10675600-10678600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:10676000-10676800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:10676000-10677000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:10676200-10677200	Weak transcription	Spleen	Spleen
11	chr2:10676200-10684400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:10676400-10676800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:10676800-10677000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:10676800-10677400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:10676800-10677400	Enhancers	A549	lung
16	chr2:10676800-10678800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr2:10676800-10678800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:10676800-10679000	Enhancers	Dnd41	blood

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