Variant report

Variant	esv3441998
Chromosome Location	chr3:99036487-99039035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78011078	chr3:99036489-99036490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556953314	chr3:99036544-99036545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139679687	chr3:99036558-99036559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35274962	chr3:99036601-99036602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551384890	chr3:99036640-99036641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144560576	chr3:99036714-99036715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112060798	chr3:99036729-99036730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568817724	chr3:99036750-99036751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571366486	chr3:99036799-99036800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202141483	chr3:99036800-99036801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370882957	chr3:99036811-99036812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191205973	chr3:99036852-99036853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141340060	chr3:99036885-99036886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12053828	chr3:99037006-99037007	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145193991	chr3:99037034-99037035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182579475	chr3:99037037-99037038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529177208	chr3:99037044-99037045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115280720	chr3:99037059-99037060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368239165	chr3:99037076-99037077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531234896	chr3:99037127-99037128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551985575	chr3:99037131-99037132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373611835	chr3:99037133-99037134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77769787	chr3:99037136-99037137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534840472	chr3:99037157-99037158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548665429	chr3:99037169-99037170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557618799	chr3:99037185-99037186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571326535	chr3:99037300-99037301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187700168	chr3:99037301-99037302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114104174	chr3:99037328-99037329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573660100	chr3:99037335-99037336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191826865	chr3:99037379-99037380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199740264	chr3:99037455-99037456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200718031	chr3:99037456-99037457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551256884	chr3:99037687-99037688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201856409	chr3:99037755-99037756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199820706	chr3:99037756-99037757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201342742	chr3:99037757-99037758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184064679	chr3:99037832-99037833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9818711	chr3:99037859-99037860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs143068048	chr3:99037870-99037871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564482360	chr3:99037889-99037890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9831801	chr3:99037897-99037898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs543509633	chr3:99037946-99037947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114030788	chr3:99037955-99037956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570477301	chr3:99037976-99037977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148202553	chr3:99037980-99037981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187618573	chr3:99037981-99037982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72936378	chr3:99038011-99038012	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374332316	chr3:99038056-99038057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551590406	chr3:99038100-99038101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99032000-99038000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:99032000-99049200	Weak transcription	Aorta	Aorta
3	chr3:99033000-99036800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:99033000-99038400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:99033200-99036600	Weak transcription	Fetal Lung	lung
6	chr3:99033600-99036800	Weak transcription	HUVEC	blood vessel
7	chr3:99034600-99040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:99034800-99038200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:99034800-99040200	Enhancers	NHDF-Ad	bronchial
10	chr3:99035000-99038000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:99035600-99038800	Enhancers	NHLF	lung
12	chr3:99035800-99037200	Enhancers	Fetal Kidney	kidney
13	chr3:99035800-99037400	Enhancers	Fetal Stomach	stomach
14	chr3:99036200-99036600	Weak transcription	Osteobl	bone
15	chr3:99036400-99037200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:99036600-99037200	Enhancers	Fetal Lung	lung
17	chr3:99036600-99039800	Enhancers	Osteobl	bone
18	chr3:99036800-99037200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:99036800-99038400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:99036800-99040600	Enhancers	HUVEC	blood vessel
21	chr3:99037000-99039000	Enhancers	HSMM	muscle
22	chr3:99037000-99039000	Enhancers	NH-A	brain
23	chr3:99037200-99037600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:99037200-99037800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:99037400-99037800	Weak transcription	Fetal Stomach	stomach
26	chr3:99037600-99038200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:99037800-99038000	Enhancers	Fetal Stomach	stomach
28	chr3:99037800-99039600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:99038000-99038600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:99038000-99038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:99038000-99040200	Weak transcription	Fetal Stomach	stomach
32	chr3:99038200-99038600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:99038200-99038800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr3:99038200-99038800	Enhancers	HSMMtube	muscle
35	chr3:99038200-99039000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:99038400-99038800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:99038400-99039200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:99038400-99039200	Enhancers	Colon Smooth Muscle	Colon
39	chr3:99038800-99039800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:99038800-99040800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:99038800-99043600	Weak transcription	HSMMtube	muscle
42	chr3:99039000-99039400	Weak transcription	HSMM	muscle
43	chr3:99039000-99040000	Weak transcription	NH-A	brain

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