Variant report

Variant	nsv589939
Chromosome Location	chr3:22275178-22286262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
2	chr3:22282412..22284259-chr3:22284738..22287975,3	MCF-7	breast:
3	chr3:22269821..22272755-chr3:22274788..22276504,2	MCF-7	breast:

Extended variants
information (count: 398 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28648055	chr3:22275178-22275179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536771170	chr3:22275202-22275203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75113399	chr3:22275314-22275315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371300470	chr3:22275321-22275322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541842996	chr3:22275333-22275334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375592305	chr3:22275364-22275365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563407893	chr3:22275422-22275423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145584384	chr3:22275439-22275440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530941494	chr3:22275449-22275450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150213088	chr3:22275484-22275485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1388548	chr3:22275487-22275488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183130883	chr3:22275507-22275508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551185496	chr3:22275521-22275522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188219414	chr3:22275553-22275554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116681572	chr3:22275566-22275567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192327577	chr3:22275578-22275579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116916931	chr3:22275613-22275614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184348936	chr3:22275616-22275617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149400706	chr3:22275637-22275638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566505762	chr3:22275638-22275639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533994220	chr3:22275662-22275663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555343625	chr3:22275675-22275676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144762978	chr3:22275710-22275711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577900929	chr3:22275747-22275748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372625731	chr3:22275751-22275752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187928285	chr3:22275762-22275763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556982937	chr3:22275764-22275765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548971596	chr3:22275774-22275775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575326524	chr3:22275796-22275797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192405465	chr3:22275810-22275811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184562479	chr3:22275817-22275818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540520595	chr3:22275829-22275830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138481701	chr3:22275840-22275841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562232694	chr3:22275841-22275842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71620747	chr3:22275847-22275848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529644012	chr3:22275858-22275859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550588843	chr3:22275874-22275875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562506341	chr3:22275882-22275883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532964453	chr3:22275956-22275957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375160152	chr3:22275958-22275959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551141286	chr3:22275961-22275962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79148486	chr3:22275975-22275976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573538138	chr3:22275977-22275978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533713115	chr3:22275987-22275988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117985694	chr3:22275988-22275989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567220348	chr3:22276008-22276009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189288447	chr3:22276033-22276034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74653741	chr3:22276050-22276051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556050079	chr3:22276100-22276101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575194389	chr3:22276124-22276125	Weak transcription	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
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Melanoma	20688739	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22268000-22278400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:22278200-22278400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:22278400-22278800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:22278400-22279200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:22278800-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:22279200-22280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:22280400-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:22280600-22280800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:22284600-22286200	Weak transcription	NHDF-Ad	bronchial
10	chr3:22285600-22287400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:22286000-22287600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:22286200-22286800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:22286200-22287600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr3:22286200-22287600	Enhancers	Fetal Stomach	stomach
15	chr3:22286200-22287600	Enhancers	HMEC	breast
16	chr3:22286200-22287600	Enhancers	NHDF-Ad	bronchial
17	chr3:22286200-22287600	Enhancers	NHLF	lung
18	chr3:22286200-22288000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:22286200-22288000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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