Variant report

Variant	esv3435888
Chromosome Location	chr3:109649312-109651260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533764787	chr3:109649335-109649336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116441934	chr3:109649433-109649434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202080442	chr3:109649495-109649496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386664521	chr3:109649496-109649497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75481733	chr3:109649497-109649498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201536318	chr3:109649498-109649499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549231607	chr3:109649499-109649500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115247225	chr3:109649502-109649503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558919086	chr3:109649525-109649526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370383104	chr3:109649526-109649527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553627754	chr3:109649530-109649531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371919228	chr3:109649536-109649537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2700255	chr3:109649537-109649538	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73217667	chr3:109649538-109649539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs192481554	chr3:109649560-109649561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577761087	chr3:109649606-109649607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs687962	chr3:109649625-109649626	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544197532	chr3:109649661-109649662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116671836	chr3:109649662-109649663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77507400	chr3:109649835-109649836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540010718	chr3:109649846-109649847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144015292	chr3:109649851-109649852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs686100	chr3:109649971-109649972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs116518891	chr3:109649996-109649997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs686207	chr3:109650009-109650010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530773963	chr3:109650027-109650028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs686471	chr3:109650030-109650031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570932572	chr3:109650031-109650032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9858209	chr3:109650039-109650040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553585729	chr3:109650076-109650077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs686071	chr3:109650095-109650096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs3995986	chr3:109650124-109650125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35253423	chr3:109650125-109650126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3995983	chr3:109650128-109650129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140372674	chr3:109650129-109650130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35311539	chr3:109650130-109650131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58386095	chr3:109650131-109650132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531371635	chr3:109650141-109650142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146421204	chr3:109650149-109650150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184533611	chr3:109650152-109650153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368378683	chr3:109650174-109650175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3861843	chr3:109650207-109650208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35910411	chr3:109650241-109650242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538854850	chr3:109650244-109650245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547502930	chr3:109650249-109650250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368460938	chr3:109650309-109650310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186690900	chr3:109650323-109650324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75036958	chr3:109650344-109650345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55903225	chr3:109650370-109650371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs673959	chr3:109650405-109650406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109647000-109649400	Enhancers	A549	lung
2	chr3:109647000-109656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:109647200-109649400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:109647200-109649400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:109647200-109649400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:109647200-109649400	Weak transcription	NH-A	brain
7	chr3:109647200-109651000	Weak transcription	NHEK	skin
8	chr3:109649000-109650000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:109649200-109649400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:109649400-109649600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:109649400-109649800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:109649400-109649800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:109649400-109649800	Enhancers	NH-A	brain
14	chr3:109649400-109650600	Weak transcription	A549	lung
15	chr3:109649800-109651400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:109650000-109651000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:109650600-109651400	Enhancers	A549	lung
18	chr3:109651000-109651200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:109651000-109651200	Enhancers	NHEK	skin
20	chr3:109651200-109651400	Weak transcription	Muscle Satellite Cultured Cells	--

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