Variant report

Variant	nsv978941
Chromosome Location	chr2:110465058-110468227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150615873	chr2:110465068-110465069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530232337	chr2:110465094-110465095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192865690	chr2:110465096-110465097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35888395	chr2:110465097-110465098	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs35061433	chr2:110465111-110465112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559290411	chr2:110465135-110465136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367895369	chr2:110465162-110465163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529995559	chr2:110465213-110465214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185009967	chr2:110465219-110465220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34494737	chr2:110465221-110465222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189633486	chr2:110465244-110465245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144990076	chr2:110465287-110465288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555841138	chr2:110465295-110465296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575629862	chr2:110465311-110465312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181156371	chr2:110465335-110465336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564823741	chr2:110465345-110465346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529285598	chr2:110465363-110465364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527611276	chr2:110465375-110465376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540842099	chr2:110465382-110465383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561149976	chr2:110465570-110465571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139937160	chr2:110465615-110465616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143395368	chr2:110465635-110465636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570208769	chr2:110465650-110465651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372432443	chr2:110465663-110465664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559706216	chr2:110465693-110465694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183779971	chr2:110465694-110465695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112679278	chr2:110465761-110465762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557390278	chr2:110465770-110465771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375906162	chr2:110465771-110465772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188121377	chr2:110465835-110465836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182049183	chr2:110465928-110465929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568643414	chr2:110465936-110465937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146687102	chr2:110466003-110466004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548871437	chr2:110466010-110466011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140291733	chr2:110466023-110466024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143426355	chr2:110466045-110466046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558154584	chr2:110466052-110466053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13416512	chr2:110466066-110466067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571973768	chr2:110466118-110466119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13383666	chr2:110466174-110466175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs200719090	chr2:110466399-110466400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187170105	chr2:110466438-110466439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113795106	chr2:110466449-110466450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191991563	chr2:110466469-110466470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374516912	chr2:110466479-110466480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563755963	chr2:110466513-110466514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181788321	chr2:110466547-110466548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186857710	chr2:110466559-110466560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190121638	chr2:110466726-110466727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528733130	chr2:110466808-110466809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
Autism	22549408	CNVD
Autism	21865298	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110458800-110468400	Weak transcription	Right Atrium	heart
2	chr2:110460200-110468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:110460200-110469200	Weak transcription	Lung	lung
4	chr2:110460400-110467000	Weak transcription	Stomach Mucosa	stomach
5	chr2:110461000-110467000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:110461000-110474200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:110461200-110467000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:110462000-110469000	Weak transcription	HepG2	liver
9	chr2:110464400-110466200	Enhancers	Esophagus	oesophagus
10	chr2:110464600-110468200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:110465000-110465400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:110466200-110473000	Weak transcription	Esophagus	oesophagus
13	chr2:110467000-110467200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:110467000-110467200	Enhancers	Stomach Mucosa	stomach
15	chr2:110467000-110467400	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:110467000-110467600	Enhancers	Colonic Mucosa	Colon
17	chr2:110467000-110467600	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr2:110467000-110468600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr2:110467000-110470000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:110467200-110468000	Weak transcription	Stomach Mucosa	stomach
21	chr2:110467200-110468200	Weak transcription	Spleen	Spleen
22	chr2:110468000-110468400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr2:110468000-110468400	Enhancers	Stomach Mucosa	stomach
24	chr2:110468000-110469800	Enhancers	Fetal Heart	heart
25	chr2:110468200-110468400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:110468200-110468600	Enhancers	Spleen	Spleen

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