Variant report

Variant	nsv1007672
Chromosome Location	chr2:34708620-34746445
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	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
2	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033

Extended variants
information (count: 535 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550255990	chr2:34708693-34708694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570163355	chr2:34708705-34708706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533055101	chr2:34708783-34708784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553496137	chr2:34708808-34708809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148547024	chr2:34708886-34708887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566287474	chr2:34708918-34708919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534987243	chr2:34708993-34708994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548937374	chr2:34708998-34708999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76971525	chr2:34709068-34709069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189224953	chr2:34709077-34709078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73928720	chr2:34709099-34709100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4670375	chr2:34709178-34709179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539939707	chr2:34709230-34709231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552870121	chr2:34709260-34709261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs193095512	chr2:34709281-34709282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60457210	chr2:34709295-34709296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs183900432	chr2:34709299-34709300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537874423	chr2:34709332-34709333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561694147	chr2:34709335-34709336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7558388	chr2:34709465-34709466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs367899330	chr2:34709476-34709477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188236158	chr2:34709492-34709493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12620888	chr2:34709510-34709511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546706344	chr2:34709569-34709570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151046281	chr2:34709613-34709614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565472717	chr2:34709620-34709621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528727908	chr2:34709662-34709663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191304015	chr2:34709691-34709692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141406374	chr2:34709732-34709733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145175098	chr2:34709751-34709752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550961994	chr2:34709782-34709783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146836704	chr2:34709809-34709810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10865101	chr2:34709841-34709842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140670018	chr2:34709854-34709855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572948511	chr2:34709949-34709950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535588029	chr2:34709976-34709977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555149286	chr2:34709979-34709980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10176617	chr2:34709988-34709989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184177354	chr2:34709992-34709993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563719642	chr2:34710042-34710043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572720236	chr2:34710072-34710073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577602783	chr2:34710076-34710077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539945587	chr2:34710077-34710078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368745908	chr2:34710099-34710100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs207461633	chr2:34710135-34710136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150468548	chr2:34710145-34710146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528983700	chr2:34710191-34710192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556834999	chr2:34710243-34710244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs137977474	chr2:34710270-34710271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373149438	chr2:34710352-34710353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34700600-34711800	Weak transcription	Fetal Kidney	kidney
2	chr2:34711000-34712800	Enhancers	Fetal Intestine Large	intestine
3	chr2:34711800-34712200	Enhancers	Fetal Kidney	kidney
4	chr2:34712000-34713000	Enhancers	Fetal Lung	lung
5	chr2:34712800-34717800	Weak transcription	Fetal Intestine Large	intestine
6	chr2:34713000-34714600	Weak transcription	Fetal Lung	lung
7	chr2:34714600-34715000	Enhancers	Fetal Lung	lung
8	chr2:34715000-34716600	Weak transcription	Fetal Lung	lung
9	chr2:34716600-34717200	Enhancers	Fetal Lung	lung
10	chr2:34717200-34717600	Weak transcription	Fetal Lung	lung
11	chr2:34717600-34717800	Enhancers	Fetal Lung	lung
12	chr2:34717800-34718000	Flanking Active TSS	Fetal Lung	lung
13	chr2:34717800-34718400	Enhancers	Fetal Intestine Large	intestine
14	chr2:34718000-34718200	Enhancers	Fetal Lung	lung
15	chr2:34718200-34718400	Flanking Active TSS	Fetal Lung	lung
16	chr2:34718400-34719000	Enhancers	Fetal Lung	lung
17	chr2:34719000-34720800	Weak transcription	Fetal Lung	lung
18	chr2:34720800-34721200	Enhancers	Fetal Lung	lung
19	chr2:34744400-34744600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:34744800-34746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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