Variant report

Variant	esv3437481
Chromosome Location	chr1:211139629-211143927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 176 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs534069785	chr1:211139681-211139682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552923918	chr1:211139745-211139746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558850331	chr1:211139750-211139751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191400346	chr1:211139759-211139760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6540638	chr1:211139765-211139766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560864222	chr1:211139779-211139780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574456461	chr1:211139795-211139796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535129958	chr1:211139845-211139846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115960249	chr1:211139867-211139868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572450072	chr1:211139892-211139893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546100540	chr1:211139930-211139931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564394329	chr1:211139963-211139964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576252309	chr1:211139969-211139970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371691684	chr1:211139984-211139985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370614090	chr1:211140005-211140006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543963390	chr1:211140019-211140020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562075631	chr1:211140020-211140021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182092633	chr1:211140057-211140058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186864854	chr1:211140091-211140092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559795192	chr1:211140100-211140101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533317862	chr1:211140128-211140129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534103274	chr1:211140178-211140179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552520756	chr1:211140193-211140194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147813708	chr1:211140215-211140216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56998447	chr1:211140252-211140253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs12140731	chr1:211140268-211140269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs192623039	chr1:211140281-211140282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532293929	chr1:211140307-211140308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535522289	chr1:211140318-211140319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553549449	chr1:211140320-211140321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571714241	chr1:211140371-211140372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185005822	chr1:211140385-211140386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189933586	chr1:211140398-211140399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536554737	chr1:211140432-211140433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550425519	chr1:211140433-211140434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562351565	chr1:211140447-211140448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200893983	chr1:211140449-211140450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202033512	chr1:211140456-211140457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11588138	chr1:211140461-211140462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs151005824	chr1:211140484-211140485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193196435	chr1:211140511-211140512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562305232	chr1:211140516-211140517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574110237	chr1:211140519-211140520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541517606	chr1:211140521-211140522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559856162	chr1:211140549-211140550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533379332	chr1:211140557-211140558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576384235	chr1:211140569-211140570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140744878	chr1:211140572-211140573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564399457	chr1:211140592-211140593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531628546	chr1:211140722-211140723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	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
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211123000-211152000	Weak transcription	HSMM	muscle

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