Variant report

Variant	esv3400428
Chromosome Location	chr2:180244557-180247055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567577636	chr2:180245626-180245627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183658197	chr2:180245644-180245645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369286347	chr2:180245758-180245759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565529306	chr2:180245815-180245816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199742684	chr2:180245817-180245818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386653162	chr2:180245819-180245820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113747433	chr2:180245820-180245821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201182406	chr2:180245821-180245822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571551268	chr2:180245850-180245851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566691314	chr2:180245910-180245911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556887426	chr2:180245945-180245946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573680999	chr2:180245968-180245969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185330280	chr2:180245993-180245994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190160817	chr2:180245994-180245995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555724221	chr2:180246008-180246009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374574997	chr2:180246014-180246015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573470620	chr2:180246087-180246088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76779855	chr2:180246133-180246134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181875567	chr2:180246136-180246137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549390237	chr2:180246156-180246157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544584480	chr2:180246157-180246158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72962221	chr2:180246166-180246167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530077049	chr2:180246200-180246201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114395436	chr2:180246222-180246223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146190875	chr2:180246238-180246239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566654756	chr2:180246242-180246243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528258637	chr2:180246258-180246259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9288029	chr2:180246268-180246269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs556500800	chr2:180246273-180246274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537303925	chr2:180246356-180246357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186484988	chr2:180246360-180246361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113294152	chr2:180246389-180246390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536297108	chr2:180246399-180246400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188488031	chr2:180246416-180246417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180910845	chr2:180246418-180246419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544799488	chr2:180246468-180246469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78989856	chr2:180246483-180246484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575761826	chr2:180246484-180246485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184968920	chr2:180246536-180246537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62176047	chr2:180246542-180246543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530016287	chr2:180246559-180246560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184063242	chr2:180246582-180246583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558135748	chr2:180246599-180246600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187375133	chr2:180246626-180246627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12105090	chr2:180246628-180246629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539736937	chr2:180246719-180246720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371135839	chr2:180246755-180246756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374525001	chr2:180246776-180246777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183596755	chr2:180246787-180246788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141484571	chr2:180246865-180246866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180245600-180251800	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links