Variant report

Variant	nsv525890
Chromosome Location	chr2:67464147-67465753
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:67464314..67465913-chr2:67549538..67550435,4	MCF-7	breast:
2	chr2:67464167..67465140-chr2:68067336..68068083,4	MCF-7	breast:
3	chr2:67464250..67465118-chr2:67877852..67878567,2	MCF-7	breast:
4	chr2:67464144..67464961-chr2:68067459..68068253,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1545861	chr2:67464147-67464148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs36052447	chr2:67464160-67464161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186159374	chr2:67464175-67464176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71411026	chr2:67464192-67464193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546895234	chr2:67464266-67464267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566809721	chr2:67464274-67464275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559124105	chr2:67464311-67464312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538448516	chr2:67464320-67464321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558765522	chr2:67464322-67464323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568962675	chr2:67464346-67464347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528365378	chr2:67464407-67464408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544116225	chr2:67464453-67464454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574069724	chr2:67464467-67464468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190922686	chr2:67464468-67464469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554034621	chr2:67464554-67464555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577512782	chr2:67464583-67464584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115681322	chr2:67464622-67464623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563057858	chr2:67464666-67464667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531828255	chr2:67464693-67464694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147930054	chr2:67464733-67464734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181941621	chr2:67464736-67464737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527672118	chr2:67464748-67464749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547854442	chr2:67464777-67464778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560465587	chr2:67464822-67464823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532391780	chr2:67464825-67464826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552199829	chr2:67464836-67464837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569003207	chr2:67464884-67464885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537669260	chr2:67464896-67464897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530497731	chr2:67464909-67464910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567852537	chr2:67464922-67464923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533540027	chr2:67464926-67464927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550324365	chr2:67464936-67464937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555035620	chr2:67464955-67464956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148542020	chr2:67464957-67464958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576771513	chr2:67465005-67465006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540090705	chr2:67465064-67465065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6719346	chr2:67465066-67465067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35598984	chr2:67465084-67465085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565404507	chr2:67465113-67465114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370683529	chr2:67465150-67465151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576558792	chr2:67465177-67465178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6735581	chr2:67465186-67465187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs533065066	chr2:67465220-67465221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552803235	chr2:67465255-67465256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562156730	chr2:67465294-67465295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199597529	chr2:67465295-67465296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572621328	chr2:67465313-67465314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541544738	chr2:67465325-67465326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564466986	chr2:67465326-67465327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151054053	chr2:67465338-67465339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67462200-67467600	Weak transcription	Hela-S3	cervix
2	chr2:67463200-67464200	Weak transcription	Ovary	ovary
3	chr2:67463600-67467600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:67464400-67464600	Enhancers	Ovary	ovary

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