Variant report

Variant	nsv962023
Chromosome Location	chr2:133114615-133118632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:133104188..133106579-chr2:133112547..133114980,2	K562	blood:

Variant related genes	Relation type
ENSG00000272769	chromatin interactions

Extended variants
information (count: 260 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:260 , 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	rs2598750	chr2:133114619-133114620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs62167613	chr2:133114641-133114642	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545482054	chr2:133114671-133114672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563794906	chr2:133114682-133114683	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528100023	chr2:133114683-133114684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62167614	chr2:133114749-133114750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562440432	chr2:133114763-133114764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529540185	chr2:133114775-133114776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551203096	chr2:133114829-133114830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2677688	chr2:133114831-133114832	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs569342551	chr2:133114832-133114833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533524496	chr2:133114869-133114870	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551907226	chr2:133114883-133114884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2598749	chr2:133114884-133114885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs142870970	chr2:133114893-133114894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115746705	chr2:133114940-133114941	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2677689	chr2:133114943-133114944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2677690	chr2:133115001-133115002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112729835	chr2:133115019-133115020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555459828	chr2:133115021-133115022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568369969	chr2:133115033-133115034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535380308	chr2:133115045-133115046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2598748	chr2:133115056-133115057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374153962	chr2:133115076-133115077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575356071	chr2:133115141-133115142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539221900	chr2:133115174-133115175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544664755	chr2:133115175-133115176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73955623	chr2:133115176-133115177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572590628	chr2:133115178-133115179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539872389	chr2:133115185-133115186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561525249	chr2:133115197-133115198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7340487	chr2:133115206-133115207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574316981	chr2:133115225-133115226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544588523	chr2:133115264-133115265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7340464	chr2:133115285-133115286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7340489	chr2:133115303-133115304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7340490	chr2:133115321-133115322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7340178	chr2:133115324-133115325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533587735	chr2:133115332-133115333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372782011	chr2:133115356-133115357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560600827	chr2:133115378-133115379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7340179	chr2:133115397-133115398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183897487	chr2:133115418-133115419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7340466	chr2:133115473-133115474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527763709	chr2:133115498-133115499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188623436	chr2:133115518-133115519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142335079	chr2:133115531-133115532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538196412	chr2:133115532-133115533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550625090	chr2:133115534-133115535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377389337	chr2:133115547-133115548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133111400-133118600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:133111400-133118600	Weak transcription	Pancreas	Pancrea
3	chr2:133118600-133118800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr2:133118600-133118800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
5	chr2:133118600-133118800	ZNF genes & repeats	Pancreas	Pancrea
6	chr2:133118600-133119000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:133118600-133119400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:133118600-133119400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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