Variant report

Variant	esv2955
Chromosome Location	chr2:212161498-212162304
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111381315	chr2:212161539-212161540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144085072	chr2:212161544-212161545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575465376	chr2:212161548-212161549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10684334	chr2:212161551-212161552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148284409	chr2:212161557-212161558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575990766	chr2:212161559-212161560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199564313	chr2:212161560-212161561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199743889	chr2:212161561-212161562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59305860	chr2:212161562-212161563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7419715	chr2:212161563-212161564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7424977	chr2:212161564-212161565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554106222	chr2:212161568-212161569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200661061	chr2:212161572-212161573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201574468	chr2:212161575-212161576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199750870	chr2:212161576-212161577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574087813	chr2:212161579-212161580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200462513	chr2:212161583-212161584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201363661	chr2:212161584-212161585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372727853	chr2:212161587-212161588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199995118	chr2:212161588-212161589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200957972	chr2:212161592-212161593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200671356	chr2:212161596-212161597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201906736	chr2:212161599-212161600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141442566	chr2:212161605-212161606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528714702	chr2:212161611-212161612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13418882	chr2:212161616-212161617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200332654	chr2:212161619-212161620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201301790	chr2:212161620-212161621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565462772	chr2:212161623-212161624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142887702	chr2:212161631-212161632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551285535	chr2:212161643-212161644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111950489	chr2:212161644-212161645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs66617012	chr2:212161646-212161647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113726246	chr2:212161647-212161648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567710203	chr2:212161677-212161678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13419011	chr2:212161732-212161733	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs547148396	chr2:212161737-212161738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566920547	chr2:212161738-212161739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78058631	chr2:212161739-212161740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111640322	chr2:212161804-212161805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569068900	chr2:212161814-212161815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115739820	chr2:212161822-212161823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574125475	chr2:212161830-212161831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572510877	chr2:212161885-212161886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188942125	chr2:212161898-212161899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553466570	chr2:212161908-212161909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35043642	chr2:212161966-212161967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111306095	chr2:212161967-212161968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10175145	chr2:212161994-212161995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545276368	chr2:212162012-212162013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212159600-212166800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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