Variant report

Variant	nsv508189
Chromosome Location	chr2:185695276-185701287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 231 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187627752	chr2:185695305-185695306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115062086	chr2:185695318-185695319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370130030	chr2:185695321-185695322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545114627	chr2:185695332-185695333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371399048	chr2:185695341-185695342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554121403	chr2:185695351-185695352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538642713	chr2:185695385-185695386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554155848	chr2:185695388-185695389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543167202	chr2:185695403-185695404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561330620	chr2:185695416-185695417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531950338	chr2:185695454-185695455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543949153	chr2:185695459-185695460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193088956	chr2:185695470-185695471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532828915	chr2:185695471-185695472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551120812	chr2:185695506-185695507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554084678	chr2:185695521-185695522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185736763	chr2:185695527-185695528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527263182	chr2:185695628-185695629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572376768	chr2:185695688-185695689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150589577	chr2:185695698-185695699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10170045	chr2:185695719-185695720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs16826218	chr2:185695723-185695724	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10181057	chr2:185695761-185695762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549371804	chr2:185695811-185695812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143606974	chr2:185695851-185695852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553756697	chr2:185695882-185695883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56200326	chr2:185695913-185695914	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76585359	chr2:185695954-185695955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555101952	chr2:185695971-185695972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576608152	chr2:185695996-185695997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543694461	chr2:185696006-185696007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565458257	chr2:185696032-185696033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528867955	chr2:185696033-185696034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547396284	chr2:185696034-185696035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374632469	chr2:185696054-185696055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147720062	chr2:185696084-185696085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs16826219	chr2:185696114-185696115	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541730852	chr2:185696119-185696120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559582234	chr2:185696128-185696129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12998966	chr2:185696155-185696156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144278306	chr2:185696203-185696204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548570021	chr2:185696237-185696238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs72905730	chr2:185696271-185696272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557884464	chr2:185696351-185696352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531421348	chr2:185696352-185696353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190439865	chr2:185696358-185696359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571443413	chr2:185696389-185696390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538421867	chr2:185696464-185696465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs13400759	chr2:185696467-185696468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs200517686	chr2:185696475-185696476	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185689600-185695400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:185695400-185697200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:185696000-185697200	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:185697200-185699400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:185697200-185699800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:185699400-185700200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:185699600-185700000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:185699600-185701200	Enhancers	Fetal Heart	heart
9	chr2:185699800-185700200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:185699800-185700200	Enhancers	Fetal Stomach	stomach
11	chr2:185699800-185700600	Enhancers	HepG2	liver
12	chr2:185700000-185700600	Enhancers	Fetal Intestine Large	intestine
13	chr2:185700000-185700600	Enhancers	Fetal Intestine Small	intestine
14	chr2:185700800-185701800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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