Variant report

Variant	esv3447849
Chromosome Location	chr2:76945244-76948742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374686863	chr2:76945322-76945323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187165082	chr2:76945330-76945331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565688237	chr2:76945393-76945394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146686563	chr2:76945407-76945408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558235371	chr2:76945433-76945434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573118434	chr2:76945436-76945437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192083847	chr2:76945462-76945463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183442753	chr2:76945463-76945464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573862539	chr2:76945487-76945488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544532217	chr2:76945516-76945517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556363471	chr2:76945536-76945537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553077373	chr2:76945584-76945585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566293278	chr2:76945585-76945586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148824544	chr2:76945603-76945604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560184082	chr2:76945640-76945641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558247892	chr2:76945700-76945701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56226076	chr2:76945715-76945716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555179498	chr2:76945720-76945721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147978496	chr2:76945722-76945723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560757567	chr2:76945727-76945728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188897763	chr2:76945734-76945735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369297920	chr2:76945758-76945759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569063314	chr2:76945777-76945778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377376566	chr2:76945844-76945845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370401899	chr2:76945857-76945858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193115920	chr2:76945865-76945866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145845473	chr2:76945866-76945867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372779207	chr2:76945869-76945870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570147399	chr2:76945871-76945872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10198490	chr2:76945883-76945884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140905928	chr2:76945900-76945901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534063816	chr2:76945927-76945928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555696181	chr2:76945928-76945929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371797822	chr2:76945966-76945967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199849141	chr2:76945970-76945971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10198427	chr2:76945979-76945980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150160520	chr2:76946124-76946125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138865445	chr2:76946143-76946144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17332908	chr2:76946196-76946197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553711690	chr2:76946214-76946215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553633168	chr2:76946229-76946230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372286743	chr2:76946230-76946231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142788587	chr2:76946286-76946287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62170436	chr2:76946317-76946318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs17332920	chr2:76946325-76946326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs59938969	chr2:76946338-76946339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528546845	chr2:76946339-76946340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544463344	chr2:76946340-76946341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184350762	chr2:76946345-76946346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75041271	chr2:76946382-76946383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76935200-76949800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:76939000-76947800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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