Variant report

Variant	esv3451178
Chromosome Location	chr3:110939662-110942510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189346942	chr3:110939662-110939663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78646976	chr3:110939712-110939713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144375173	chr3:110939719-110939720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530908580	chr3:110939751-110939752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116447387	chr3:110939762-110939763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534187269	chr3:110939766-110939767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547988835	chr3:110939796-110939797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570952979	chr3:110939900-110939901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16845013	chr3:110939921-110939922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536378496	chr3:110939926-110939927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181844183	chr3:110939968-110939969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376426718	chr3:110939977-110939978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186533300	chr3:110940037-110940038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191790759	chr3:110940115-110940116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546787630	chr3:110940127-110940128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6437961	chr3:110940136-110940137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113803588	chr3:110940145-110940146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572394955	chr3:110940174-110940175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6792042	chr3:110940193-110940194	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs557949608	chr3:110940205-110940206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374756381	chr3:110940218-110940219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554783953	chr3:110940279-110940280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111631103	chr3:110940322-110940323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183626274	chr3:110940330-110940331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6437962	chr3:110940332-110940333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs562643864	chr3:110940336-110940337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531652354	chr3:110940443-110940444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16857739	chr3:110940451-110940452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373984682	chr3:110940454-110940455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575191187	chr3:110940537-110940538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191216517	chr3:110940544-110940545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547755427	chr3:110940549-110940550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567887616	chr3:110940557-110940558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374920703	chr3:110940579-110940580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530226015	chr3:110940598-110940599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547957770	chr3:110940613-110940614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550358871	chr3:110940618-110940619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141388114	chr3:110940623-110940624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538711627	chr3:110940628-110940629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558616158	chr3:110940633-110940634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565665109	chr3:110940640-110940641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182090024	chr3:110940647-110940648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530797704	chr3:110940651-110940652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186584561	chr3:110940686-110940687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376878525	chr3:110940712-110940713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557285403	chr3:110940737-110940738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74284552	chr3:110940745-110940746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79833679	chr3:110940774-110940775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6801425	chr3:110940862-110940863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564970631	chr3:110940923-110940924	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
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
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110920000-110945800	Weak transcription	HSMMtube	muscle
2	chr3:110930400-110961000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:110934600-110942000	Weak transcription	Pancreas	Pancrea

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