Variant report

Variant	nsv441801
Chromosome Location	chr2:205658020-205683746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
2	chr2:205663276..205663797-chr3:140910816..140911375,4	K562	blood:

Extended variants
information (count: 720 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560132559	chr2:205658035-205658036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548553747	chr2:205658192-205658193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527297090	chr2:205658207-205658208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552102871	chr2:205658209-205658210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560747183	chr2:205658223-205658224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570233031	chr2:205658273-205658274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537513049	chr2:205658291-205658292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527847103	chr2:205658299-205658300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550796134	chr2:205658367-205658368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552270205	chr2:205658385-205658386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6740517	chr2:205658473-205658474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554955715	chr2:205658481-205658482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569132899	chr2:205658491-205658492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573444588	chr2:205658543-205658544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116210907	chr2:205658546-205658547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117776707	chr2:205658585-205658586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193086785	chr2:205658593-205658594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544705922	chr2:205658609-205658610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562716342	chr2:205658665-205658666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73982523	chr2:205658673-205658674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs6730405	chr2:205658682-205658683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201101801	chr2:205658683-205658684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560189655	chr2:205658689-205658690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185030229	chr2:205658753-205658754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149071903	chr2:205658882-205658883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563722115	chr2:205658907-205658908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535362432	chr2:205658992-205658993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531332346	chr2:205658993-205658994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374001825	chr2:205659001-205659002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189412704	chr2:205659008-205659009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191497633	chr2:205659024-205659025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73066629	chr2:205659039-205659040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs370171812	chr2:205659047-205659048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77103338	chr2:205659057-205659058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567075609	chr2:205659069-205659070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs13410699	chr2:205659079-205659080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559030317	chr2:205659093-205659094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116364391	chr2:205659100-205659101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6715642	chr2:205659104-205659105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79439528	chr2:205659105-205659106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574827843	chr2:205659144-205659145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115377839	chr2:205659208-205659209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183691779	chr2:205659231-205659232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370682832	chr2:205659242-205659243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544716265	chr2:205659269-205659270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562874080	chr2:205659303-205659304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572279102	chr2:205659342-205659343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545676655	chr2:205659353-205659354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563778728	chr2:205659359-205659360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574844957	chr2:205659396-205659397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205642200-205659600	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:205654000-205673600	Weak transcription	Pancreas	Pancrea
3	chr2:205655200-205658200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:205655800-205659200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:205656400-205659600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:205656600-205659600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:205656800-205660000	Weak transcription	HSMM	muscle
8	chr2:205657600-205659600	Weak transcription	Osteobl	bone
9	chr2:205658000-205660000	Weak transcription	Psoas Muscle	Psoas
10	chr2:205658200-205659800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:205659000-205659800	Enhancers	HUVEC	blood vessel
12	chr2:205659000-205660200	Enhancers	Ovary	ovary
13	chr2:205659200-205659400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:205659200-205659400	Enhancers	Aorta	Aorta
15	chr2:205659200-205659400	Enhancers	Esophagus	oesophagus
16	chr2:205659200-205660000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:205659400-205659800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:205659400-205660000	Weak transcription	Aorta	Aorta
19	chr2:205659400-205660800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:205659400-205663000	Weak transcription	Esophagus	oesophagus
21	chr2:205659600-205660200	Enhancers	Colon Smooth Muscle	Colon
22	chr2:205659600-205660400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:205659600-205660400	Enhancers	Osteobl	bone
24	chr2:205659600-205660800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:205659800-205660000	Flanking Active TSS	HUVEC	blood vessel
26	chr2:205659800-205660200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:205659800-205660200	Enhancers	NH-A	brain
28	chr2:205659800-205660400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:205659800-205660400	Enhancers	NHDF-Ad	bronchial
30	chr2:205659800-205660400	Enhancers	NHEK	skin
31	chr2:205659800-205660800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:205660000-205660200	Enhancers	Aorta	Aorta
33	chr2:205660000-205660200	Enhancers	Psoas Muscle	Psoas
34	chr2:205660000-205660200	Enhancers	HSMMtube	muscle
35	chr2:205660000-205660200	Enhancers	HUVEC	blood vessel
36	chr2:205660000-205660400	Enhancers	HSMM	muscle
37	chr2:205660200-205660400	Flanking Active TSS	HUVEC	blood vessel
38	chr2:205660200-205661200	Weak transcription	Aorta	Aorta
39	chr2:205660200-205661200	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:205660400-205661400	Enhancers	HUVEC	blood vessel
41	chr2:205660400-205662400	Weak transcription	HSMM	muscle
42	chr2:205661200-205661400	Enhancers	Colon Smooth Muscle	Colon
43	chr2:205661200-205661600	Enhancers	GM12878-XiMat	blood
44	chr2:205661200-205661800	Enhancers	Aorta	Aorta
45	chr2:205661400-205664400	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:205661800-205663400	Weak transcription	Aorta	Aorta
47	chr2:205663000-205663200	ZNF genes & repeats	Esophagus	oesophagus
48	chr2:205663000-205664200	Weak transcription	Fetal Stomach	stomach
49	chr2:205663200-205663600	Weak transcription	Esophagus	oesophagus
50	chr2:205663400-205663600	ZNF genes & repeats	Aorta	Aorta

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