Variant report

Variant	esv17839
Chromosome Location	chr2:234569283-234575116
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540940545	chr2:234569303-234569304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139472545	chr2:234569306-234569307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183151199	chr2:234569309-234569310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142779756	chr2:234569347-234569348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373276702	chr2:234569350-234569351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146144815	chr2:234569386-234569387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529384577	chr2:234569439-234569440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114034466	chr2:234569441-234569442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140196528	chr2:234569499-234569500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571493051	chr2:234569543-234569544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376616575	chr2:234569593-234569594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534981952	chr2:234569712-234569713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558511461	chr2:234569737-234569738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199786036	chr2:234569763-234569764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186810346	chr2:234569811-234569812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35723461	chr2:234569812-234569813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386392922	chr2:234569819-234569820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370739998	chr2:234569853-234569854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547785127	chr2:234569921-234569922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142398466	chr2:234570091-234570092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576105740	chr2:234570094-234570095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535517496	chr2:234570107-234570108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555133398	chr2:234570138-234570139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13383382	chr2:234570176-234570177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540575133	chr2:234570194-234570195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564049184	chr2:234570247-234570248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374311396	chr2:234570268-234570269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73996161	chr2:234570278-234570279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543298504	chr2:234570279-234570280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200886254	chr2:234570281-234570282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71058570	chr2:234570284-234570285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563475872	chr2:234570285-234570286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529403996	chr2:234570286-234570287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562180536	chr2:234570302-234570303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531187999	chr2:234570318-234570319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55749169	chr2:234570328-234570329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549472792	chr2:234570329-234570330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371105375	chr2:234570331-234570332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78337459	chr2:234570354-234570355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78858023	chr2:234570356-234570357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547930478	chr2:234570359-234570360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373813774	chr2:234570391-234570392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559560760	chr2:234570419-234570420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139360456	chr2:234570422-234570423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376558452	chr2:234570434-234570435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551761528	chr2:234570449-234570450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs17862851	chr2:234570474-234570475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs537739868	chr2:234570495-234570496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550924246	chr2:234570504-234570505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187702837	chr2:234570557-234570558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	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
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234554600-234587800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr2:234567000-234572000	Weak transcription	Colonic Mucosa	Colon
4	chr2:234568400-234569800	Weak transcription	Liver	Liver
5	chr2:234569800-234571400	Enhancers	Liver	Liver
6	chr2:234570000-234570600	Enhancers	A549	lung
7	chr2:234570600-234572400	Weak transcription	A549	lung

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