Variant report

Variant	esv3419353
Chromosome Location	chr2:185429657-185431655
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	chr2:185430305..185432149-chr2:185447587..185450234,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533708155	chr2:185429666-185429667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551871561	chr2:185429679-185429680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115135020	chr2:185429729-185429730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528169866	chr2:185429751-185429752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10931147	chr2:185429792-185429793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189014192	chr2:185429882-185429883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13417933	chr2:185429918-185429919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557222258	chr2:185429987-185429988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559941789	chr2:185430000-185430001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539765462	chr2:185430012-185430013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534111304	chr2:185430013-185430014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181429471	chr2:185430021-185430022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535556071	chr2:185430118-185430119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573146417	chr2:185430124-185430125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13007079	chr2:185430131-185430132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540275575	chr2:185430179-185430180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10803977	chr2:185430182-185430183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538135546	chr2:185430204-185430205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533903880	chr2:185430207-185430208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542753810	chr2:185430228-185430229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74333502	chr2:185430231-185430232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184286442	chr2:185430311-185430312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371701813	chr2:185430312-185430313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13034026	chr2:185430337-185430338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200325433	chr2:185430339-185430340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13034027	chr2:185430340-185430341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11429881	chr2:185430348-185430349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531420762	chr2:185430392-185430393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549101557	chr2:185430449-185430450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567998694	chr2:185430474-185430475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201436739	chr2:185430557-185430558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374133484	chr2:185430564-185430565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562775589	chr2:185430595-185430596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535411759	chr2:185430601-185430602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533448674	chr2:185430644-185430645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545728784	chr2:185430648-185430649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189445907	chr2:185430702-185430703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528056425	chr2:185430707-185430708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546642177	chr2:185430816-185430817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74409948	chr2:185430879-185430880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537895511	chr2:185430914-185430915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530208568	chr2:185430946-185430947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139860348	chr2:185430986-185430987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569082613	chr2:185431028-185431029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539261926	chr2:185431082-185431083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557989379	chr2:185431097-185431098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566667211	chr2:185431111-185431112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534166497	chr2:185431163-185431164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143426972	chr2:185431174-185431175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548735165	chr2:185431178-185431179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185429600-185432200	Weak transcription	Fetal Brain Male	brain
2	chr2:185431400-185431800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr2:185431600-185432000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr2:185431600-185432000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:185431600-185432000	Enhancers	NHEK	skin
6	chr2:185431600-185432200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:185431600-185432200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:185431600-185432200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links