Variant report

Variant	nsv874886
Chromosome Location	chr2:113786504-113792776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113778463..113783936-chr2:113784891..113788081,5	K562	blood:
2	chr2:113787918..113790326-chr2:113790543..113792272,2	K562	blood:
3	chr2:113778463..113780634-chr2:113785926..113787939,2	K562	blood:
4	chr2:113780916..113783936-chr2:113784891..113788063,3	K562	blood:
5	chr2:113787918..113790326-chr2:113790543..113792272,2	K562	blood:
6	chr2:113716174..113716685-chr2:113789552..113790103,2	MCF-7	breast:

Extended variants
information (count: 274 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34856653	chr2:113786504-113786505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187035339	chr2:113786507-113786508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145021212	chr2:113786540-113786541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147435589	chr2:113786553-113786554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191826739	chr2:113786568-113786569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182588966	chr2:113786587-113786588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200349123	chr2:113786592-113786593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs267598838	chr2:113786608-113786609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185272483	chr2:113786624-113786625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558575436	chr2:113786632-113786633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141108409	chr2:113786637-113786638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368357447	chr2:113786660-113786661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572261251	chr2:113786679-113786680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189984235	chr2:113786707-113786708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35872763	chr2:113786717-113786718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373031656	chr2:113786764-113786765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570954982	chr2:113786778-113786779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543526359	chr2:113786784-113786785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539977008	chr2:113786791-113786792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182595117	chr2:113786818-113786819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs3948121	chr2:113786833-113786834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs34101340	chr2:113786913-113786914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552162368	chr2:113787027-113787028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370806395	chr2:113787039-113787040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559836644	chr2:113787044-113787045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187056625	chr2:113787070-113787071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114007384	chr2:113787071-113787072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568625025	chr2:113787122-113787123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537216703	chr2:113787150-113787151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111671518	chr2:113787154-113787155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550680889	chr2:113787193-113787194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575397550	chr2:113787200-113787201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570561644	chr2:113787239-113787240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191471844	chr2:113787269-113787270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4849143	chr2:113787356-113787357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs183252601	chr2:113787365-113787366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377507334	chr2:113787450-113787451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75829794	chr2:113787482-113787483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34098499	chr2:113787485-113787486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554500568	chr2:113787529-113787530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574708266	chr2:113787538-113787539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543597126	chr2:113787548-113787549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563382342	chr2:113787572-113787573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554834664	chr2:113787585-113787586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545864375	chr2:113787591-113787592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139736130	chr2:113787606-113787607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35391805	chr2:113787622-113787623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34352179	chr2:113787636-113787637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370726062	chr2:113787644-113787645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34345657	chr2:113787674-113787675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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	17122850	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113797400	Weak transcription	Gastric	stomach
2	chr2:113785800-113787400	Enhancers	K562	blood
3	chr2:113786000-113786600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr2:113787400-113788400	Weak transcription	K562	blood
5	chr2:113788400-113789000	Enhancers	K562	blood
6	chr2:113789000-113789400	Weak transcription	K562	blood
7	chr2:113789400-113792600	Enhancers	K562	blood
8	chr2:113789600-113789800	Enhancers	Esophagus	oesophagus
9	chr2:113789800-113790000	Flanking Active TSS	Esophagus	oesophagus
10	chr2:113790000-113790400	Active TSS	Esophagus	oesophagus
11	chr2:113790200-113790400	Enhancers	Stomach Mucosa	stomach
12	chr2:113790600-113794200	Weak transcription	Stomach Mucosa	stomach

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