Variant report

Variant	esv3430260
Chromosome Location	chr11:84569654-84571552
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	chr11:84567200..84570703-chr11:84574977..84578515,4	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535651335	chr11:84569669-84569670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs17147642	chr11:84569702-84569703	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs569164041	chr11:84569709-84569710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185717050	chr11:84569727-84569728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115090472	chr11:84569737-84569738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17147647	chr11:84569743-84569744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375442597	chr11:84569745-84569746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576457203	chr11:84569816-84569817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533600626	chr11:84569831-84569832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555047980	chr11:84569836-84569837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574664174	chr11:84569854-84569855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542034914	chr11:84569891-84569892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147109667	chr11:84569898-84569899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575922226	chr11:84569900-84569901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545876110	chr11:84569924-84569925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564548013	chr11:84569927-84569928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565402477	chr11:84569945-84569946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372487270	chr11:84570006-84570007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73516925	chr11:84570019-84570020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547071140	chr11:84570027-84570028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181734936	chr11:84570096-84570097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529081273	chr11:84570116-84570117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541107274	chr11:84570126-84570127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184113380	chr11:84570148-84570149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539759544	chr11:84570237-84570238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551394664	chr11:84570241-84570242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188797372	chr11:84570281-84570282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145242267	chr11:84570300-84570301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577399619	chr11:84570333-84570334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541242478	chr11:84570334-84570335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559064157	chr11:84570338-84570339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555933633	chr11:84570354-84570355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370347390	chr11:84570370-84570371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555011260	chr11:84570417-84570418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113275415	chr11:84570427-84570428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547836557	chr11:84570429-84570430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567057519	chr11:84570431-84570432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147605110	chr11:84570438-84570439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541137841	chr11:84570440-84570441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11234208	chr11:84570442-84570443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57643378	chr11:84570447-84570448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11234209	chr11:84570448-84570449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11234210	chr11:84570451-84570452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11234211	chr11:84570457-84570458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564058018	chr11:84570459-84570460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558173487	chr11:84570460-84570461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573248959	chr11:84570463-84570464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540663309	chr11:84570465-84570466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11234212	chr11:84570466-84570467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570635966	chr11:84570467-84570468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:84565200-84571000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:84565600-84570800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:84566600-84570800	Weak transcription	Fetal Heart	heart
4	chr11:84567200-84570600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:84567400-84576800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:84569000-84570400	Weak transcription	NHLF	lung
7	chr11:84570600-84571000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:84570600-84571200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:84570800-84571200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr11:84570800-84571600	Enhancers	Fetal Heart	heart
11	chr11:84570800-84571800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:84571000-84571200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:84571000-84571200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:84571000-84579400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:84571200-84572000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:84571200-84572000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:84571200-84572400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr11:84571400-84571600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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