Variant report

Variant	esv3391600
Chromosome Location	chr1:239400129-239403127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138555640	chr1:239400168-239400169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551329530	chr1:239400171-239400172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569856059	chr1:239400190-239400191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530676716	chr1:239400197-239400198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548808643	chr1:239400214-239400215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186635987	chr1:239400265-239400266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535583855	chr1:239400268-239400269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553962135	chr1:239400286-239400287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192530000	chr1:239400334-239400335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555308769	chr1:239400359-239400360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558090153	chr1:239400405-239400406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576846948	chr1:239400450-239400451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2820017	chr1:239400528-239400529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13375734	chr1:239400550-239400551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553080986	chr1:239400605-239400606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574268574	chr1:239400619-239400620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557191096	chr1:239400636-239400637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541604093	chr1:239400646-239400647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115514579	chr1:239400687-239400688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532998262	chr1:239400688-239400689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58708395	chr1:239400706-239400707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71799646	chr1:239400707-239400708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397746866	chr1:239400714-239400715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544688906	chr1:239400776-239400777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563286236	chr1:239400778-239400779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530762613	chr1:239400802-239400803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548845645	chr1:239400820-239400821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535061634	chr1:239400828-239400829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539331623	chr1:239400830-239400831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201520169	chr1:239400831-239400832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78726884	chr1:239400838-239400839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560785383	chr1:239400868-239400869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376521258	chr1:239400869-239400870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370633606	chr1:239400909-239400910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546725063	chr1:239400913-239400914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184903791	chr1:239400985-239400986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2790651	chr1:239401009-239401010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs551529449	chr1:239401082-239401083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570043821	chr1:239401105-239401106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34207044	chr1:239401210-239401211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557665414	chr1:239401219-239401220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537774942	chr1:239401265-239401266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138032914	chr1:239401302-239401303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574360403	chr1:239401314-239401315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2790650	chr1:239401361-239401362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553492608	chr1:239401366-239401367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2790649	chr1:239401375-239401376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545086264	chr1:239401464-239401465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562974433	chr1:239401474-239401475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574880661	chr1:239401476-239401477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239397200-239405600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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