Variant report

Variant	esv3425782
Chromosome Location	chr2:78418369-78420842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75153717	chr2:78418380-78418381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs60824620	chr2:78418386-78418387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184261194	chr2:78418406-78418407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569747823	chr2:78418415-78418416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538449137	chr2:78418429-78418430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113218264	chr2:78418447-78418448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572222391	chr2:78418449-78418450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540999614	chr2:78418452-78418453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572384492	chr2:78418465-78418466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373822590	chr2:78418466-78418467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554641141	chr2:78418477-78418478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371627816	chr2:78418478-78418479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376062782	chr2:78418479-78418480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572054309	chr2:78418508-78418509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78841539	chr2:78418523-78418524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117495374	chr2:78418529-78418530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564055098	chr2:78418538-78418539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147973728	chr2:78418548-78418549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140892161	chr2:78418550-78418551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72925700	chr2:78418552-78418553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs527363041	chr2:78418563-78418564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547549379	chr2:78418569-78418570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141743606	chr2:78418638-78418639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56128223	chr2:78418661-78418662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549762160	chr2:78418726-78418727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569942100	chr2:78418732-78418733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77044175	chr2:78418797-78418798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72927603	chr2:78418810-78418811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs373347147	chr2:78418819-78418820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138817668	chr2:78418925-78418926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189467952	chr2:78418927-78418928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574736459	chr2:78418932-78418933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376800961	chr2:78418933-78418934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5012194	chr2:78418935-78418936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs115099861	chr2:78418951-78418952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577636025	chr2:78418964-78418965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72819072	chr2:78418966-78418967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149365497	chr2:78419121-78419122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573519566	chr2:78419125-78419126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540766425	chr2:78419149-78419150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567157896	chr2:78419160-78419161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546159220	chr2:78419161-78419162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200052864	chr2:78419162-78419163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533368633	chr2:78419172-78419173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs70956676	chr2:78419182-78419183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12997399	chr2:78419183-78419184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13023847	chr2:78419186-78419187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181779784	chr2:78419189-78419190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5832320	chr2:78419202-78419203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12997410	chr2:78419203-78419204	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
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78414600-78418600	Weak transcription	HepG2	liver
2	chr2:78418600-78418800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:78418600-78419000	Enhancers	HepG2	liver
4	chr2:78418800-78428000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:78419000-78432400	Weak transcription	HepG2	liver

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