Variant report

Variant	esv3353468
Chromosome Location	chr1:216277629-216283527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD3-9	chr1:216283470-216284562	NONHSAT009483

Extended variants
information (count: 129 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112034074	chr1:216279605-216279606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192453226	chr1:216279613-216279614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs67655833	chr1:216279660-216279661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560411315	chr1:216279668-216279669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10589896	chr1:216279671-216279672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397777753	chr1:216279673-216279674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184549628	chr1:216279713-216279714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189331752	chr1:216279764-216279765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202047967	chr1:216279793-216279794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147999716	chr1:216279908-216279909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181526308	chr1:216279911-216279912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574896903	chr1:216279912-216279913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562976526	chr1:216279925-216279926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573570220	chr1:216280001-216280002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78012935	chr1:216280017-216280018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559601146	chr1:216280048-216280049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528334112	chr1:216280073-216280074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34936061	chr1:216280089-216280090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545238825	chr1:216280119-216280120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111658257	chr1:216280134-216280135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187116850	chr1:216280225-216280226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202217626	chr1:216280303-216280304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531062662	chr1:216280308-216280309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551086877	chr1:216280437-216280438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537448174	chr1:216280469-216280470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567710291	chr1:216280511-216280512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530109462	chr1:216280519-216280520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142366353	chr1:216280539-216280540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567172178	chr1:216280598-216280599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538936926	chr1:216280601-216280602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558756518	chr1:216280653-216280654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569091832	chr1:216280661-216280662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536788714	chr1:216280835-216280836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116005483	chr1:216280879-216280880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72429427	chr1:216280886-216280887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398103689	chr1:216280889-216280890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573606071	chr1:216280906-216280907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189485785	chr1:216280916-216280917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181613909	chr1:216281012-216281013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34087316	chr1:216281028-216281029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397788038	chr1:216281040-216281041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201652365	chr1:216281041-216281042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552659754	chr1:216281057-216281058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573111725	chr1:216281068-216281069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577903912	chr1:216281078-216281079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370440981	chr1:216281088-216281089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202146520	chr1:216281096-216281097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566085607	chr1:216281100-216281101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545308669	chr1:216281113-216281114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565117533	chr1:216281130-216281131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Acute lymphoblastic leukemia	17443227	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
Acute lymphoblastic leukemia	21098271	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
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216279600-216286600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links