Variant report

Variant	esv3349790
Chromosome Location	chr2:9873557-9874404
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	chr2:9871478..9874528-chr2:9876144..9879356,3	K562	blood:
2	chr2:9870027..9872978-chr2:9873410..9875751,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 57 )

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	rs115313757	chr2:9873586-9873587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576452798	chr2:9873637-9873638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545216766	chr2:9873725-9873726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148984240	chr2:9873726-9873727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182971838	chr2:9873778-9873779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540743652	chr2:9873780-9873781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561051901	chr2:9873814-9873815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187306453	chr2:9873835-9873836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549391244	chr2:9873845-9873846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369073013	chr2:9873846-9873847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569202282	chr2:9873853-9873854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111398488	chr2:9873884-9873885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116128311	chr2:9873903-9873904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190397211	chr2:9873906-9873907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143801636	chr2:9873962-9873963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553960268	chr2:9873996-9873997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73155146	chr2:9874038-9874039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536645354	chr2:9874056-9874057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543087672	chr2:9874088-9874089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556636284	chr2:9874093-9874094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367852242	chr2:9874122-9874123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545279848	chr2:9874145-9874146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540525460	chr2:9874162-9874163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182547078	chr2:9874163-9874164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541252724	chr2:9874169-9874170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188108815	chr2:9874180-9874181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531863400	chr2:9874199-9874200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548871347	chr2:9874204-9874205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192496233	chr2:9874237-9874238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75414642	chr2:9874244-9874245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562902967	chr2:9874267-9874268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113040446	chr2:9874273-9874274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10164660	chr2:9874293-9874294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs571943719	chr2:9874330-9874331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527861356	chr2:9874332-9874333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548017108	chr2:9874335-9874336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567646160	chr2:9874341-9874342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73155149	chr2:9874389-9874390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

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
Neuroblastoma	18923524	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9869600-9875800	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links