Variant report

Variant	esv2763230
Chromosome Location	chr3:21879418-21887264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:21874988..21876733-chr3:21878025..21880087,4	K562	blood:
2	chr3:5840727..5841325-chr3:21880161..21880796,2	MCF-7	breast:
3	chr3:21827028..21830015-chr3:21877815..21880748,2	K562	blood:

Extended variants
information (count: 436 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9810237	chr3:21879418-21879419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370630954	chr3:21879429-21879430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112035705	chr3:21879436-21879437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76715070	chr3:21879438-21879439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201010876	chr3:21879469-21879470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2673527	chr3:21879476-21879477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561679514	chr3:21879499-21879500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369573635	chr3:21879526-21879527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116552559	chr3:21879558-21879559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13060593	chr3:21879566-21879567	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs2630794	chr3:21879567-21879568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2630770	chr3:21879594-21879595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs551553958	chr3:21879598-21879599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183479024	chr3:21879608-21879609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114807063	chr3:21879629-21879630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9868247	chr3:21879637-21879638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2630769	chr3:21879640-21879641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs140463312	chr3:21879647-21879648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559758746	chr3:21879698-21879699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546060718	chr3:21879711-21879712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115436080	chr3:21879720-21879721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs188479406	chr3:21879760-21879761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116772091	chr3:21879784-21879785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561543505	chr3:21879833-21879834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534710298	chr3:21879837-21879838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528914312	chr3:21879838-21879839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114688515	chr3:21879842-21879843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192594787	chr3:21879864-21879865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183114662	chr3:21879890-21879891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2673526	chr3:21879900-21879901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17009715	chr3:21879912-21879913	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377134590	chr3:21879925-21879926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17009717	chr3:21879984-21879985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs187701371	chr3:21880004-21880005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567640015	chr3:21880006-21880007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144412076	chr3:21880018-21880019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556587830	chr3:21880023-21880024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377497827	chr3:21880039-21880040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2630795	chr3:21880060-21880061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs368099838	chr3:21880071-21880072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554943683	chr3:21880076-21880077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558004273	chr3:21880086-21880087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577101907	chr3:21880088-21880089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17009720	chr3:21880091-21880092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111984690	chr3:21880103-21880104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73144884	chr3:21880106-21880107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573648552	chr3:21880148-21880149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147848969	chr3:21880161-21880162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17009724	chr3:21880164-21880165	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75325461	chr3:21880170-21880171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21877800-21880800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:21878000-21879800	Weak transcription	Fetal Heart	heart
3	chr3:21878000-21881200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:21878200-21880000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:21878200-21880000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:21879400-21881400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:21879800-21881200	Enhancers	Fetal Heart	heart
8	chr3:21880000-21880200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:21880000-21881600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:21880200-21880400	Enhancers	NHDF-Ad	bronchial
11	chr3:21880600-21881000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:21880800-21881200	Enhancers	Aorta	Aorta
13	chr3:21880800-21881400	Enhancers	NH-A	brain
14	chr3:21880800-21881600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:21881000-21881200	Enhancers	NHDF-Ad	bronchial
16	chr3:21881000-21881400	Enhancers	Psoas Muscle	Psoas
17	chr3:21881200-21881600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:21881200-21884800	Weak transcription	Aorta	Aorta
19	chr3:21881400-21881800	Weak transcription	Fetal Heart	heart
20	chr3:21881400-21882400	Weak transcription	Psoas Muscle	Psoas
21	chr3:21882400-21882600	Enhancers	Psoas Muscle	Psoas
22	chr3:21882800-21883000	Enhancers	Fetal Heart	heart
23	chr3:21883000-21883200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:21883200-21884600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:21884000-21884800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:21884600-21886000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:21884800-21885000	Enhancers	Aorta	Aorta
28	chr3:21885000-21888200	Weak transcription	Aorta	Aorta
29	chr3:21886200-21886600	Enhancers	HUES48 Cell Line	embryonic stem cell

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