Variant report

Variant	esv2503033
Chromosome Location	chr2:76971618-76973048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71420954	chr2:76971634-76971635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543611770	chr2:76971638-76971639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9973350	chr2:76971642-76971643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2056212	chr2:76971649-76971650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116705955	chr2:76971706-76971707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10202431	chr2:76971709-76971710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2056213	chr2:76971741-76971742	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181156569	chr2:76971759-76971760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553147673	chr2:76971764-76971765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569862300	chr2:76971786-76971787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2139503	chr2:76971790-76971791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537206108	chr2:76971799-76971800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552426090	chr2:76971844-76971845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186593482	chr2:76971846-76971847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150215789	chr2:76971849-76971850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191393415	chr2:76971859-76971860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115345554	chr2:76971883-76971884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574372909	chr2:76971908-76971909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57443921	chr2:76971915-76971916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555195541	chr2:76971933-76971934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576685912	chr2:76971955-76971956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543575160	chr2:76971966-76971967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565119838	chr2:76971974-76971975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539476033	chr2:76971976-76971977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183840851	chr2:76971998-76971999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187852589	chr2:76972014-76972015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114921486	chr2:76972026-76972027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35557837	chr2:76972067-76972068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191163523	chr2:76972090-76972091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575963268	chr2:76972096-76972097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13425862	chr2:76972139-76972140	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541862950	chr2:76972166-76972167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4853268	chr2:76972172-76972173	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530844693	chr2:76972208-76972209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567494225	chr2:76972309-76972310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182180436	chr2:76972346-76972347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144841619	chr2:76972405-76972406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386647534	chr2:76972423-76972424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4853269	chr2:76972429-76972430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535399898	chr2:76972538-76972539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372000335	chr2:76972622-76972623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556698228	chr2:76972625-76972626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186668977	chr2:76972631-76972632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537323661	chr2:76972652-76972653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558868221	chr2:76972695-76972696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9973885	chr2:76972715-76972716	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs559461304	chr2:76972789-76972790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192741674	chr2:76972813-76972814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368711808	chr2:76972842-76972843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553386498	chr2:76972852-76972853	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	chr2:76960800-76974600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:76963800-76985800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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