Variant report

Variant	esv1815717
Chromosome Location	chr2:110780596-110811060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 192 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565180888	chr2:110783876-110783877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1972810	chr2:110783884-110783885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577318078	chr2:110783915-110783916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539970087	chr2:110784109-110784110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141473006	chr2:110784119-110784120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559701968	chr2:110784128-110784129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528898543	chr2:110784139-110784140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371847735	chr2:110784160-110784161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376854971	chr2:110784183-110784184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368696583	chr2:110784206-110784207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546688534	chr2:110784207-110784208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs406115	chr2:110784224-110784225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549233318	chr2:110784305-110784306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562644349	chr2:110784309-110784310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113660456	chr2:110784377-110784378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370164758	chr2:110784380-110784381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373168391	chr2:110784523-110784524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571510723	chr2:110784545-110784546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534261562	chr2:110785548-110785549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547945701	chr2:110785566-110785567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146681801	chr2:110785634-110785635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536271763	chr2:110785674-110785675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556768588	chr2:110785676-110785677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576655433	chr2:110785690-110785691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539367379	chr2:110785694-110785695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558705337	chr2:110785711-110785712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572339410	chr2:110785721-110785722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539908978	chr2:110785750-110785751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559839391	chr2:110785777-110785778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201533161	chr2:110785796-110785797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143984605	chr2:110785805-110785806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542265895	chr2:110785810-110785811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562543760	chr2:110785827-110785828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531501378	chr2:110785839-110785840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545347773	chr2:110785870-110785871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565058085	chr2:110785872-110785873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527497641	chr2:110785923-110785924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547882918	chr2:110785973-110785974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567656530	chr2:110786003-110786004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs336776	chr2:110786008-110786009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549905422	chr2:110786010-110786011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62160479	chr2:110786078-110786079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570060545	chr2:110786104-110786105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538931735	chr2:110786107-110786108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558842186	chr2:110786118-110786119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565909541	chr2:110786132-110786133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534894184	chr2:110786134-110786135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553413284	chr2:110786152-110786153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573642652	chr2:110786252-110786253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542752375	chr2:110786254-110786255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110783800-110784000	Enhancers	Fetal Intestine Large	intestine
2	chr2:110783800-110786000	Weak transcription	Pancreas	Pancrea
3	chr2:110785800-110792600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:110786000-110786400	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:110792600-110793000	Enhancers	Pancreas	Pancrea
6	chr2:110805800-110806600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr2:110805800-110806600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:110806000-110806600	Enhancers	Pancreas	Pancrea
9	chr2:110806000-110807600	Enhancers	Fetal Muscle Trunk	muscle
10	chr2:110806000-110807600	Enhancers	HepG2	liver
11	chr2:110806200-110806600	Enhancers	HSMMtube	muscle
12	chr2:110806400-110807000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:110810400-110811000	Enhancers	HUVEC	blood vessel
14	chr2:110810600-110810800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:110810600-110810800	Enhancers	Fetal Heart	heart
16	chr2:110810600-110810800	Enhancers	A549	lung
17	chr2:110810600-110810800	Enhancers	NHEK	skin
18	chr2:110810600-110811000	Enhancers	Fetal Lung	lung
19	chr2:110810600-110811000	Enhancers	Dnd41	blood
20	chr2:110811000-110812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:110811000-110812000	Weak transcription	Fetal Heart	heart
22	chr2:110811000-110812000	Weak transcription	Fetal Lung	lung
23	chr2:110811000-110812000	Weak transcription	A549	lung
24	chr2:110811000-110812000	Weak transcription	HUVEC	blood vessel
25	chr2:110811000-110812000	Weak transcription	NHEK	skin

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