Variant report

Variant	esv3392450
Chromosome Location	chr2:78830144-78834842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:78828832..78831056-chr2:78839903..78841751,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188792706	chr2:78832449-78832450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115269463	chr2:78832486-78832487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577632299	chr2:78832494-78832495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192575471	chr2:78832553-78832554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563742173	chr2:78832567-78832568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532726568	chr2:78832581-78832582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546887525	chr2:78832634-78832635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566625431	chr2:78832745-78832746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545074423	chr2:78832751-78832752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138751828	chr2:78832767-78832768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569070088	chr2:78832768-78832769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1915703	chr2:78832777-78832778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551861518	chr2:78832831-78832832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34184095	chr2:78832849-78832850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541741069	chr2:78832852-78832853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397871246	chr2:78832853-78832854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs72056783	chr2:78832854-78832855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397834111	chr2:78832861-78832862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs59046983	chr2:78832880-78832881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141791935	chr2:78832911-78832912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77046914	chr2:78832920-78832921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143551042	chr2:78833058-78833059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148022479	chr2:78833128-78833129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536940100	chr2:78833179-78833180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559843631	chr2:78833250-78833251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7605989	chr2:78833265-78833266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184599910	chr2:78833277-78833278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571706001	chr2:78833288-78833289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543911050	chr2:78833347-78833348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563803013	chr2:78833382-78833383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577239780	chr2:78833400-78833401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368872855	chr2:78833474-78833475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113042446	chr2:78833476-78833477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547657354	chr2:78833508-78833509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529221324	chr2:78833526-78833527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549214951	chr2:78833531-78833532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562683697	chr2:78833575-78833576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543243098	chr2:78833615-78833616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551929574	chr2:78833619-78833620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367630372	chr2:78833622-78833623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150842249	chr2:78833666-78833667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189240844	chr2:78833728-78833729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181034138	chr2:78833754-78833755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539729067	chr2:78833793-78833794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139896881	chr2:78833852-78833853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557758577	chr2:78833896-78833897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536546225	chr2:78833904-78833905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554651894	chr2:78833937-78833938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77739983	chr2:78834039-78834040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143813940	chr2:78834077-78834078	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:78832400-78833200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:78832400-78834600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:78833000-78833200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:78833200-78833800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:78833600-78834800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:78833800-78834400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:78834000-78834400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:78834000-78834400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links