Variant report

Variant	nsv961716
Chromosome Location	chr2:35180271-35206425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 435 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182847122	chr2:35181448-35181449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187933324	chr2:35181458-35181459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548067222	chr2:35181478-35181479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530181025	chr2:35181510-35181511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530576956	chr2:35181567-35181568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190899439	chr2:35181568-35181569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139902055	chr2:35181569-35181570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183605652	chr2:35181594-35181595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546610614	chr2:35181645-35181646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188203923	chr2:35181671-35181672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112184472	chr2:35181679-35181680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540608242	chr2:35181718-35181719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560454958	chr2:35181719-35181720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184343711	chr2:35181790-35181791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186850590	chr2:35181808-35181809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113723659	chr2:35181876-35181877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7593164	chr2:35181877-35181878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201634366	chr2:35181881-35181882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199759450	chr2:35181885-35181886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557153466	chr2:35181915-35181916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571405631	chr2:35181951-35181952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538257278	chr2:35182005-35182006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73928701	chr2:35182006-35182007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7593282	chr2:35182015-35182016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs149834883	chr2:35182075-35182076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377003656	chr2:35182135-35182136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77953040	chr2:35182215-35182216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145500022	chr2:35182239-35182240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555565080	chr2:35182282-35182283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535972806	chr2:35182287-35182288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575534654	chr2:35182304-35182305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139605837	chr2:35182316-35182317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184921234	chr2:35182331-35182332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145016076	chr2:35182376-35182377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533090675	chr2:35182380-35182381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6747531	chr2:35182399-35182400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6543885	chr2:35182561-35182562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs75395283	chr2:35182564-35182565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189630362	chr2:35182586-35182587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568442481	chr2:35182605-35182606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181786355	chr2:35182613-35182614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577422444	chr2:35182624-35182625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147564501	chr2:35182637-35182638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185296344	chr2:35182651-35182652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs34680389	chr2:35182688-35182689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189746820	chr2:35182708-35182709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546634733	chr2:35182709-35182710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566885254	chr2:35182847-35182848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535717305	chr2:35182853-35182854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181341916	chr2:35182883-35182884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	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
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35181400-35187000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:35187000-35187400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr2:35187000-35187400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:35187200-35187600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:35202000-35204400	Weak transcription	Pancreas	Pancrea
6	chr2:35204000-35204400	Active TSS	Hela-S3	cervix
7	chr2:35204400-35204600	Genic enhancers	Pancreas	Pancrea
8	chr2:35204600-35206200	Weak transcription	Pancreas	Pancrea

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