Variant report

Variant	esv3354799
Chromosome Location	chr3:111550662-111554185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:181 , 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	rs547905422	chr3:111550674-111550675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567356024	chr3:111550676-111550677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4260399	chr3:111550762-111550763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141196562	chr3:111550812-111550813	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs4260400	chr3:111550819-111550820	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs150753438	chr3:111550832-111550833	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs139687309	chr3:111550833-111550834	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs4521192	chr3:111550843-111550844	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs551782432	chr3:111550867-111550868	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs565333410	chr3:111550878-111550879	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs114886235	chr3:111550886-111550887	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs554603405	chr3:111550918-111550919	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs574175161	chr3:111550962-111550963	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs536821397	chr3:111551013-111551014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150125410	chr3:111551041-111551042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376089928	chr3:111551043-111551044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527773149	chr3:111551051-111551052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144442227	chr3:111551069-111551070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146140613	chr3:111551079-111551080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547297369	chr3:111551148-111551149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565590398	chr3:111551160-111551161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76777283	chr3:111551191-111551192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs398091732	chr3:111551193-111551194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545715562	chr3:111551206-111551207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141021994	chr3:111551224-111551225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201956634	chr3:111551237-111551238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77517657	chr3:111551257-111551258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140182319	chr3:111551285-111551286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79450700	chr3:111551302-111551303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561403720	chr3:111551308-111551309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531727578	chr3:111551322-111551323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186546013	chr3:111551363-111551364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs72936500	chr3:111551382-111551383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191356527	chr3:111551400-111551401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532319734	chr3:111551423-111551424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76359849	chr3:111551472-111551473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62280075	chr3:111551503-111551504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149764190	chr3:111551529-111551530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184958506	chr3:111551534-111551535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367657994	chr3:111551535-111551536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111899743	chr3:111551538-111551539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568461288	chr3:111551561-111551562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145375498	chr3:111551646-111551647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189765508	chr3:111551647-111551648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62644681	chr3:111551650-111551651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188780892	chr3:111551659-111551660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193142299	chr3:111551664-111551665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183597905	chr3:111551673-111551674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62644682	chr3:111551676-111551677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191873312	chr3:111551699-111551700	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111541200-111577600	Weak transcription	Pancreas	Pancrea
2	chr3:111543800-111550800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:111544400-111556800	Weak transcription	Liver	Liver
4	chr3:111545800-111550800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:111545800-111550800	Weak transcription	NHEK	skin
6	chr3:111546200-111550800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:111547600-111556800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr3:111549000-111550800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:111550400-111551400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:111550400-111551400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:111550600-111551000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:111550600-111551000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr3:111550600-111551000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:111550600-111551000	Enhancers	NH-A	brain
15	chr3:111550600-111551200	Enhancers	Primary T cells from cord blood	blood
16	chr3:111550600-111551200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:111550600-111551200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:111550600-111551200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr3:111550600-111551200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr3:111550600-111551200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:111550600-111551200	Enhancers	HMEC	breast
22	chr3:111550600-111551400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr3:111550600-111551400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:111550600-111551400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:111550600-111551400	Enhancers	Dnd41	blood
26	chr3:111550600-111551400	Enhancers	Osteobl	bone
27	chr3:111550800-111551000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:111550800-111551000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:111550800-111551000	Bivalent Enhancer	NHDF-Ad	bronchial
30	chr3:111550800-111551200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:111550800-111551200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr3:111550800-111551200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:111550800-111551200	Enhancers	NHEK	skin
34	chr3:111550800-111551400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:111551000-111551200	Enhancers	NHDF-Ad	bronchial
36	chr3:111551200-111556200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:111551400-111564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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