Variant report

Variant	esv3374278
Chromosome Location	chr11:18803476-18807374
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	chr11:18801236..18803235-chr11:18806253..18807765,2	MCF-7	breast:

Extended variants
information (count: 149 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539190381	chr11:18803479-18803480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557274041	chr11:18803497-18803498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114517117	chr11:18803518-18803519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536337203	chr11:18803522-18803523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548431869	chr11:18803557-18803558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111687052	chr11:18803583-18803584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377594759	chr11:18803590-18803591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573252867	chr11:18803614-18803615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540665309	chr11:18803643-18803644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190149602	chr11:18803656-18803657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566939863	chr11:18803668-18803669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577230238	chr11:18803692-18803693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534292491	chr11:18803734-18803735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181345792	chr11:18803753-18803754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146160439	chr11:18803783-18803784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562551341	chr11:18803788-18803789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75355013	chr11:18803791-18803792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61885204	chr11:18803793-18803794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56245438	chr11:18803797-18803798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547980014	chr11:18803820-18803821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559845618	chr11:18803915-18803916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201611275	chr11:18803918-18803919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199940832	chr11:18803931-18803932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201220328	chr11:18803952-18803953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527278604	chr11:18803982-18803983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551772366	chr11:18803994-18803995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143809255	chr11:18804022-18804023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538971461	chr11:18804075-18804076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551294961	chr11:18804083-18804084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146859891	chr11:18804142-18804143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536878479	chr11:18804151-18804152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186595851	chr11:18804170-18804171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573389124	chr11:18804202-18804203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538869117	chr11:18804244-18804245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191912444	chr11:18804327-18804328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375858295	chr11:18804340-18804341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183628218	chr11:18804345-18804346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544169592	chr11:18804357-18804358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556468321	chr11:18804432-18804433	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs546793399	chr11:18804445-18804446	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs140549491	chr11:18804447-18804448	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541659887	chr11:18804456-18804457	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559784533	chr11:18804458-18804459	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs527407864	chr11:18804467-18804468	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545351408	chr11:18804475-18804476	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556876228	chr11:18804513-18804514	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs7131023	chr11:18804524-18804525	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371118572	chr11:18804573-18804574	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531380885	chr11:18804576-18804577	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550967381	chr11:18804580-18804581	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18784000-18808000	Weak transcription	Fetal Brain Female	brain
2	chr11:18790800-18811400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:18793600-18809000	Weak transcription	Brain Angular Gyrus	brain
4	chr11:18794600-18811800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:18795400-18804600	Weak transcription	Brain Anterior Caudate	brain
6	chr11:18796400-18812400	Weak transcription	Right Atrium	heart
7	chr11:18802200-18811800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:18802600-18804400	Weak transcription	Spleen	Spleen
9	chr11:18804400-18805200	Active TSS	Spleen	Spleen
10	chr11:18804600-18805000	Enhancers	Brain Anterior Caudate	brain
11	chr11:18805400-18805600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:18806600-18807600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:18806600-18807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:18806800-18807600	Enhancers	NHDF-Ad	bronchial
15	chr11:18807200-18807600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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