Variant report

Variant	nsv874884
Chromosome Location	chr2:113772596-113777280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113768707..113772207-chr2:113772751..113775961,3	K562	blood:
2	chr2:113772280..113775208-chr2:113776344..113777930,2	K562	blood:
3	chr2:113772280..113775208-chr2:113776344..113777930,2	K562	blood:

Extended variants
information (count: 200 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:200 , 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	rs35029104	chr2:113772596-113772597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139591175	chr2:113772708-113772709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78750054	chr2:113772754-113772755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188618920	chr2:113772805-113772806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567030723	chr2:113772845-113772846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535932552	chr2:113772850-113772851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555785224	chr2:113772879-113772880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575968951	chr2:113772911-113772912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545410128	chr2:113772947-113772948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559215548	chr2:113773054-113773055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576005172	chr2:113773088-113773089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28394377	chr2:113773104-113773105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541656839	chr2:113773106-113773107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529588082	chr2:113773124-113773125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561459343	chr2:113773126-113773127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530266339	chr2:113773138-113773139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549356330	chr2:113773171-113773172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563568180	chr2:113773172-113773173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559529573	chr2:113773208-113773209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532555538	chr2:113773257-113773258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34713475	chr2:113773301-113773302	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571521420	chr2:113773329-113773330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35197197	chr2:113773330-113773331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs34626467	chr2:113773373-113773374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34647471	chr2:113773395-113773396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34488498	chr2:113773485-113773486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567120469	chr2:113773509-113773510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541693479	chr2:113773544-113773545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1867831	chr2:113773561-113773562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556206079	chr2:113773601-113773602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569613626	chr2:113773602-113773603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572855212	chr2:113773608-113773609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558228855	chr2:113773643-113773644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570283516	chr2:113773645-113773646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572741595	chr2:113773649-113773650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34762311	chr2:113773656-113773657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535333954	chr2:113773694-113773695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7562313	chr2:113773709-113773710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116794040	chr2:113773710-113773711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374507001	chr2:113773717-113773718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537074361	chr2:113773777-113773778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372275385	chr2:113773781-113773782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367829793	chr2:113773862-113773863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563827121	chr2:113773895-113773896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35225653	chr2:113774015-113774016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546187903	chr2:113774065-113774066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559478523	chr2:113774087-113774088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149956175	chr2:113774145-113774146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35708381	chr2:113774173-113774174	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs549595972	chr2:113774185-113774186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113773000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:113765600-113797400	Weak transcription	Gastric	stomach
3	chr2:113765800-113773000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:113768200-113773400	Weak transcription	Fetal Thymus	thymus
5	chr2:113771400-113773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:113772000-113773200	Weak transcription	K562	blood
7	chr2:113773000-113774000	Enhancers	Primary T cells from cord blood	blood
8	chr2:113773000-113774000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:113773000-113774000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr2:113773000-113774600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:113773200-113773600	Enhancers	K562	blood
12	chr2:113773200-113773800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr2:113773400-113773600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:113773400-113773800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:113773400-113773800	Enhancers	Fetal Thymus	thymus
16	chr2:113773400-113774000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:113773400-113774600	Enhancers	Stomach Mucosa	stomach
18	chr2:113774000-113774200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:113774000-113779400	Weak transcription	Primary T cells from cord blood	blood

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