Variant report

Variant	esv20355
Chromosome Location	chr2:57842228-57849900
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	chr2:57835362..57837031-chr2:57842743..57844296,2	MCF-7	breast:

Extended variants
information (count: 269 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:269 , 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	rs532248249	chr2:57842228-57842229	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552262441	chr2:57842240-57842241	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565716496	chr2:57842252-57842253	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192016471	chr2:57842254-57842255	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548096007	chr2:57842258-57842259	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529231509	chr2:57842262-57842263	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567847000	chr2:57842264-57842265	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569659747	chr2:57842284-57842285	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149166797	chr2:57842315-57842316	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558158088	chr2:57842329-57842330	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556344457	chr2:57842342-57842343	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569877339	chr2:57842393-57842394	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548620341	chr2:57842422-57842423	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538791267	chr2:57842430-57842431	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17810870	chr2:57842453-57842454	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs572433665	chr2:57842456-57842457	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541052460	chr2:57842458-57842459	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554913818	chr2:57842459-57842460	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574665245	chr2:57842500-57842501	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143524991	chr2:57842522-57842523	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184666075	chr2:57842534-57842535	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563481924	chr2:57842543-57842544	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148032601	chr2:57842552-57842553	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545964693	chr2:57842606-57842607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11898116	chr2:57842611-57842612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13030457	chr2:57842655-57842656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200287532	chr2:57842657-57842658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528121463	chr2:57842680-57842681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547900456	chr2:57842743-57842744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10173141	chr2:57842770-57842771	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530338922	chr2:57842807-57842808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533541729	chr2:57842883-57842884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188683333	chr2:57842884-57842885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569962613	chr2:57842886-57842887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114336995	chr2:57842938-57842939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566947723	chr2:57842948-57842949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558663289	chr2:57842953-57842954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566058991	chr2:57842954-57842955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535088030	chr2:57842982-57842983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10196912	chr2:57843046-57843047	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574732881	chr2:57843049-57843050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543777154	chr2:57843078-57843079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10199287	chr2:57843117-57843118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554193694	chr2:57843135-57843136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs193298901	chr2:57843149-57843150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184299336	chr2:57843175-57843176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567605559	chr2:57843184-57843185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559463305	chr2:57843270-57843271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144866417	chr2:57843276-57843277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576180336	chr2:57843403-57843404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	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
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57842200-57842400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:57842200-57842600	Genic enhancers	Thymus	Thymus
3	chr2:57842200-57842800	Enhancers	Fetal Thymus	thymus
4	chr2:57842600-57843400	Enhancers	Thymus	Thymus
5	chr2:57842800-57843200	Weak transcription	Fetal Thymus	thymus
6	chr2:57842800-57844200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:57843200-57843400	Enhancers	Fetal Thymus	thymus
8	chr2:57843400-57843800	Enhancers	Fetal Heart	heart
9	chr2:57843400-57844400	Weak transcription	Fetal Thymus	thymus
10	chr2:57843400-57844400	Weak transcription	Thymus	Thymus
11	chr2:57844200-57845000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:57844400-57844600	Flanking Active TSS	Fetal Thymus	thymus
13	chr2:57844400-57844600	Flanking Active TSS	Thymus	Thymus
14	chr2:57844400-57844800	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:57844400-57844800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:57844600-57846400	Active TSS	Fetal Thymus	thymus
17	chr2:57844600-57846400	Active TSS	Thymus	Thymus
18	chr2:57846400-57846600	Enhancers	Fetal Thymus	thymus
19	chr2:57846600-57855400	Weak transcription	Fetal Thymus	thymus
20	chr2:57846800-57849600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:57848400-57848600	Enhancers	Brain Germinal Matrix	brain
22	chr2:57848400-57849600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:57848400-57850000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:57848800-57849800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:57848800-57850000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:57848800-57850000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:57848800-57850000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:57849000-57849800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr2:57849000-57850000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:57849200-57849400	Enhancers	Brain Germinal Matrix	brain
31	chr2:57849200-57849600	Enhancers	Fetal Heart	heart
32	chr2:57849600-57850600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:57849800-57850200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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