Variant report

Variant	esv3378591
Chromosome Location	chr2:11230526-11233474
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	chr2:11224082..11226359-chr2:11231709..11234438,2	MCF-7	breast:
2	chr2:11233178..11236122-chr2:11242887..11244913,2	MCF-7	breast:

Extended variants
information (count: 104 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557098795	chr2:11230546-11230547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575385004	chr2:11230565-11230566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76940555	chr2:11230582-11230583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141760174	chr2:11230613-11230614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114883591	chr2:11230663-11230664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572858843	chr2:11230693-11230694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532792516	chr2:11230778-11230779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540245091	chr2:11230795-11230796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184242080	chr2:11230925-11230926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188969233	chr2:11230928-11230929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551189848	chr2:11230952-11230953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28780775	chr2:11230982-11230983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58744070	chr2:11230989-11230990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61191586	chr2:11230999-11231000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181612350	chr2:11231005-11231006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59553644	chr2:11231052-11231053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569400610	chr2:11231094-11231095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185529545	chr2:11231123-11231124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28822988	chr2:11231174-11231175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9678108	chr2:11231205-11231206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182592630	chr2:11231212-11231213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536726859	chr2:11231316-11231317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28972947	chr2:11231360-11231361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548367803	chr2:11231370-11231371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189769843	chr2:11231452-11231453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181090520	chr2:11231459-11231460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185475365	chr2:11231481-11231482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190331669	chr2:11231490-11231491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183379202	chr2:11231497-11231498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188833432	chr2:11231519-11231520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28972964	chr2:11231791-11231792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28970777	chr2:11231881-11231882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28971880	chr2:11231915-11231916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28970480	chr2:11231937-11231938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28971330	chr2:11231938-11231939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28794877	chr2:11231953-11231954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191903214	chr2:11231968-11231969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28873442	chr2:11231987-11231988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28793958	chr2:11231989-11231990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7596590	chr2:11232017-11232018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566864091	chr2:11232065-11232066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533904266	chr2:11232083-11232084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7560085	chr2:11232102-11232103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111214800	chr2:11232104-11232105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530277036	chr2:11232119-11232120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7557513	chr2:11232134-11232135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184193364	chr2:11232154-11232155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549016364	chr2:11232163-11232164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368238596	chr2:11232189-11232190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374537197	chr2:11232191-11232192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	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
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11221200-11233000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11232600-11233000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:11232600-11233400	Enhancers	Brain Substantia Nigra	brain
4	chr2:11232800-11233000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:11232800-11233000	Enhancers	Gastric	stomach
6	chr2:11232800-11233200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:11232800-11233200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:11232800-11233200	Enhancers	Brain Hippocampus Middle	brain
9	chr2:11232800-11233200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:11232800-11233400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:11233000-11233200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:11233000-11233800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:11233000-11233800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:11233000-11234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:11233000-11253000	Weak transcription	Gastric	stomach
16	chr2:11233200-11233400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11233400-11234400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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