Variant report

Variant	esv3415356
Chromosome Location	chr1:194180429-194184127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145099455	chr1:194180444-194180445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369970934	chr1:194180478-194180479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564107393	chr1:194180482-194180483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528189166	chr1:194180519-194180520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546719689	chr1:194180618-194180619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192289197	chr1:194180636-194180637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529101386	chr1:194180645-194180646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550572012	chr1:194180646-194180647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111667626	chr1:194180652-194180653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370465911	chr1:194180653-194180654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376050757	chr1:194180657-194180658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532321619	chr1:194180701-194180702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569111460	chr1:194180713-194180714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184075548	chr1:194180750-194180751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188556314	chr1:194180788-194180789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181323297	chr1:194180801-194180802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547745966	chr1:194180802-194180803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73052905	chr1:194180808-194180809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369935625	chr1:194180898-194180899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574126270	chr1:194180937-194180938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185922231	chr1:194180994-194180995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74395683	chr1:194180997-194180998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556516863	chr1:194181001-194181002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539935769	chr1:194181017-194181018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112750801	chr1:194181018-194181019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565848617	chr1:194181027-194181028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189183916	chr1:194181033-194181034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564021420	chr1:194181046-194181047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140485021	chr1:194181108-194181109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540295063	chr1:194181129-194181130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182383091	chr1:194181136-194181137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571245556	chr1:194181165-194181166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76942781	chr1:194181223-194181224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75881971	chr1:194181230-194181231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562589372	chr1:194181268-194181269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202082589	chr1:194181273-194181274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139243321	chr1:194181274-194181275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147471554	chr1:194181275-194181276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149993212	chr1:194181276-194181277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112307162	chr1:194181277-194181278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533013267	chr1:194181281-194181282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80307536	chr1:194181302-194181303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34976568	chr1:194181309-194181310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566495826	chr1:194181315-194181316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533955675	chr1:194181362-194181363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186420834	chr1:194181410-194181411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372838642	chr1:194181428-194181429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56965660	chr1:194181466-194181467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59514552	chr1:194181467-194181468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199678651	chr1:194181470-194181471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	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
Hepatocellular carcinoma	18803288	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
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194159400-194195200	Weak transcription	Thymus	Thymus
2	chr1:194176000-194189200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:194184000-194195400	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links