Variant report

Variant	esv3398747
Chromosome Location	chr11:62718001-62720549
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	chr11:62720469..62722198-chr11:62725329..62727254,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546841466	chr11:62718008-62718009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566843878	chr11:62718019-62718020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs367551293	chr11:62718028-62718029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372089026	chr11:62718036-62718037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147091499	chr11:62718068-62718069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375539445	chr11:62718069-62718070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368574699	chr11:62718078-62718079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566706360	chr11:62718113-62718114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368410584	chr11:62718114-62718115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112464220	chr11:62718115-62718116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554556826	chr11:62718116-62718117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185073501	chr11:62718173-62718174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558323557	chr11:62718203-62718204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138255219	chr11:62718216-62718217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113570149	chr11:62718244-62718245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540635476	chr11:62718245-62718246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191527529	chr11:62718264-62718265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531292356	chr11:62718295-62718296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76650778	chr11:62718309-62718310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368787396	chr11:62718326-62718327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182913984	chr11:62718336-62718337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188115591	chr11:62718397-62718398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541795497	chr11:62718450-62718451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149185213	chr11:62718500-62718501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73490049	chr11:62718515-62718516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142289309	chr11:62718525-62718526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544677753	chr11:62718532-62718533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75287720	chr11:62718549-62718550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530665493	chr11:62718597-62718598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369263070	chr11:62718613-62718614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192940192	chr11:62718677-62718678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374665133	chr11:62718692-62718693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143515077	chr11:62718737-62718738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546201264	chr11:62718797-62718798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375259202	chr11:62718817-62718818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148004723	chr11:62718818-62718819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182863845	chr11:62718827-62718828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369285795	chr11:62718840-62718841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569422771	chr11:62718847-62718848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562946374	chr11:62718875-62718876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538448928	chr11:62718921-62718922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72931384	chr11:62718970-62718971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116532011	chr11:62718988-62718989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187928168	chr11:62719066-62719067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113541904	chr11:62719089-62719090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71496952	chr11:62719090-62719091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368921514	chr11:62719092-62719093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576514794	chr11:62719101-62719102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199918799	chr11:62719124-62719125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534150112	chr11:62719125-62719126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62714800-62726800	Weak transcription	Right Atrium	heart

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