Variant report

Variant	nsv963698
Chromosome Location	chr2:111457082-111459584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:111450177..111452870-chr2:111458026..111461829,3	K562	blood:
2	chr2:111459398..111461165-chr2:111467655..111470104,2	K562	blood:
3	chr2:111435750..111438683-chr2:111457735..111460578,3	K562	blood:
4	chr2:111458404..111460649-chr2:111464662..111466530,2	K562	blood:
5	chr2:111457344..111460792-chr2:111461200..111464523,4	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577559859	chr2:111457091-111457092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148728967	chr2:111457189-111457190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539895171	chr2:111457207-111457208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554012919	chr2:111457280-111457281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531775734	chr2:111457283-111457284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114955930	chr2:111457409-111457410	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs147270173	chr2:111457484-111457485	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531542877	chr2:111457527-111457528	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs373338367	chr2:111457532-111457533	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs570878980	chr2:111457578-111457579	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs545475358	chr2:111457579-111457580	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569591055	chr2:111457594-111457595	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs565279909	chr2:111457653-111457654	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182069664	chr2:111457654-111457655	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547506657	chr2:111457662-111457663	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567665189	chr2:111457674-111457675	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530303824	chr2:111457752-111457753	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35417403	chr2:111457777-111457778	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs569877266	chr2:111457795-111457796	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184759920	chr2:111457801-111457802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370124053	chr2:111457834-111457835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189086860	chr2:111457859-111457860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181513935	chr2:111457888-111457889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185774121	chr2:111457905-111457906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191129789	chr2:111457954-111457955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573680859	chr2:111457960-111457961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542902508	chr2:111457964-111457965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115322902	chr2:111457965-111457966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576301118	chr2:111457984-111457985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs58861621	chr2:111458036-111458037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565362485	chr2:111458048-111458049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181018126	chr2:111458087-111458088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs79170000	chr2:111458100-111458101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541535086	chr2:111458122-111458123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560902424	chr2:111458180-111458181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185949673	chr2:111458189-111458190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151241187	chr2:111458241-111458242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570061271	chr2:111458250-111458251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140454804	chr2:111458264-111458265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149740760	chr2:111458334-111458335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566281254	chr2:111458352-111458353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192462190	chr2:111458378-111458379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565609067	chr2:111458474-111458475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374932406	chr2:111458478-111458479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534525839	chr2:111458483-111458484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35479239	chr2:111458530-111458531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183916568	chr2:111458550-111458551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186063009	chr2:111458561-111458562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74758661	chr2:111458626-111458627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576439151	chr2:111458711-111458712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111453200-111460200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:111457000-111457200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:111457000-111457600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr2:111457000-111457600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:111457000-111458400	Enhancers	K562	blood
6	chr2:111457400-111457600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:111457400-111457800	Active TSS	Spleen	Spleen
8	chr2:111457600-111460200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:111457800-111458000	Weak transcription	Spleen	Spleen
10	chr2:111458000-111458400	Enhancers	Spleen	Spleen
11	chr2:111458400-111461600	Weak transcription	K562	blood

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