Variant report

Variant	nsv508720
Chromosome Location	chr2:34706772-34745646
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: 591 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141471394	chr2:34706780-34706781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576294304	chr2:34706799-34706800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75422424	chr2:34706800-34706801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531917011	chr2:34706805-34706806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565259185	chr2:34706810-34706811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191930016	chr2:34706827-34706828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111602249	chr2:34706862-34706863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145101772	chr2:34706918-34706919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80036875	chr2:34706941-34706942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530218632	chr2:34706957-34706958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549959488	chr2:34707020-34707021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201149303	chr2:34707089-34707090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6543845	chr2:34707113-34707114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532421965	chr2:34707147-34707148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6543846	chr2:34707152-34707153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs565656696	chr2:34707247-34707248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112063980	chr2:34707254-34707255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548265331	chr2:34707272-34707273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568018724	chr2:34707278-34707279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113254046	chr2:34707326-34707327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6543847	chr2:34707342-34707343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556309781	chr2:34707388-34707389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569942991	chr2:34707391-34707392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562108813	chr2:34707401-34707402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369249859	chr2:34707409-34707410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7355317	chr2:34707410-34707411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559025725	chr2:34707414-34707415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572399448	chr2:34707430-34707431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183029081	chr2:34707431-34707432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143506034	chr2:34707444-34707445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116009815	chr2:34707478-34707479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543957025	chr2:34707519-34707520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377738323	chr2:34707528-34707529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147970436	chr2:34707532-34707533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532385272	chr2:34707551-34707552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546069566	chr2:34707717-34707718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559435561	chr2:34707823-34707824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114446099	chr2:34707830-34707831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528390548	chr2:34707850-34707851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535671916	chr2:34707868-34707869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150520426	chr2:34707888-34707889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184990531	chr2:34707926-34707927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190239655	chr2:34707931-34707932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550294881	chr2:34707938-34707939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4670086	chr2:34707971-34707972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549887115	chr2:34707978-34707979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182580179	chr2:34707993-34707994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559106642	chr2:34707994-34707995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566200567	chr2:34708036-34708037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139613129	chr2:34708043-34708044	Enhancers 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34700600-34711800	Weak transcription	Fetal Kidney	kidney
2	chr2:34706200-34708000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:34708000-34708600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:34711000-34712800	Enhancers	Fetal Intestine Large	intestine
5	chr2:34711800-34712200	Enhancers	Fetal Kidney	kidney
6	chr2:34712000-34713000	Enhancers	Fetal Lung	lung
7	chr2:34712800-34717800	Weak transcription	Fetal Intestine Large	intestine
8	chr2:34713000-34714600	Weak transcription	Fetal Lung	lung
9	chr2:34714600-34715000	Enhancers	Fetal Lung	lung
10	chr2:34715000-34716600	Weak transcription	Fetal Lung	lung
11	chr2:34716600-34717200	Enhancers	Fetal Lung	lung
12	chr2:34717200-34717600	Weak transcription	Fetal Lung	lung
13	chr2:34717600-34717800	Enhancers	Fetal Lung	lung
14	chr2:34717800-34718000	Flanking Active TSS	Fetal Lung	lung
15	chr2:34717800-34718400	Enhancers	Fetal Intestine Large	intestine
16	chr2:34718000-34718200	Enhancers	Fetal Lung	lung
17	chr2:34718200-34718400	Flanking Active TSS	Fetal Lung	lung
18	chr2:34718400-34719000	Enhancers	Fetal Lung	lung
19	chr2:34719000-34720800	Weak transcription	Fetal Lung	lung
20	chr2:34720800-34721200	Enhancers	Fetal Lung	lung
21	chr2:34744400-34744600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:34744800-34746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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