Variant report

Variant	esv3491966
Chromosome Location	chr3:105305077-105311431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 179 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs528532911	chr3:105305110-105305111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72991822	chr3:105305155-105305156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568376186	chr3:105305315-105305316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184000059	chr3:105305366-105305367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550724886	chr3:105305381-105305382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568716657	chr3:105305389-105305390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145247475	chr3:105305390-105305391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80154761	chr3:105305403-105305404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77625838	chr3:105305409-105305410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201454338	chr3:105305410-105305411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146995043	chr3:105305412-105305413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377462434	chr3:105305413-105305414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566130703	chr3:105305415-105305416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56177899	chr3:105305453-105305454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202105120	chr3:105305465-105305466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76332354	chr3:105305470-105305471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550300709	chr3:105305474-105305475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13084643	chr3:105305481-105305482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9812171	chr3:105305530-105305531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs553377489	chr3:105305542-105305543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575045492	chr3:105305583-105305584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137869951	chr3:105305607-105305608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149488662	chr3:105305632-105305633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115985500	chr3:105305634-105305635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546313302	chr3:105305673-105305674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143945142	chr3:105305675-105305676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9849713	chr3:105305677-105305678	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375570555	chr3:105305688-105305689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372447400	chr3:105305689-105305690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540584537	chr3:105305697-105305698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111875012	chr3:105305701-105305702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187919496	chr3:105305740-105305741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148258239	chr3:105305765-105305766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9812640	chr3:105305766-105305767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562334797	chr3:105305770-105305771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533006986	chr3:105305772-105305773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367810311	chr3:105305803-105305804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7616103	chr3:105305809-105305810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566598774	chr3:105305813-105305814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533667548	chr3:105305814-105305815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116312025	chr3:105305815-105305816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115640866	chr3:105305821-105305822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113375547	chr3:105305868-105305869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147393534	chr3:105305881-105305882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71327577	chr3:105305882-105305883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62262989	chr3:105305901-105305902	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564330381	chr3:105305916-105305917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200834862	chr3:105306005-105306006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553638562	chr3:105306006-105306007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575884677	chr3:105306019-105306020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105272200-105312800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:105300000-105307800	Weak transcription	HSMM	muscle

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