Variant report

Variant	esv3379106
Chromosome Location	chr18:11512086-11513131
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	chr18:11309816..11310769-chr18:11512438..11513268,3	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552345176	chr18:11512137-11512138	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9957329	chr18:11512232-11512233	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs538030139	chr18:11512258-11512259	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8087343	chr18:11512261-11512262	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370428196	chr18:11512266-11512267	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138670380	chr18:11512380-11512381	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564678522	chr18:11512429-11512430	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs532060611	chr18:11512439-11512440	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568351251	chr18:11512440-11512441	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs8087856	chr18:11512456-11512457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529958971	chr18:11512479-11512480	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149297040	chr18:11512523-11512524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567556652	chr18:11512528-11512529	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144771726	chr18:11512535-11512536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs8088825	chr18:11512551-11512552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs493495	chr18:11512555-11512556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187193868	chr18:11512568-11512569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112730083	chr18:11512590-11512591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192029121	chr18:11512595-11512596	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554430215	chr18:11512601-11512602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs493331	chr18:11512609-11512610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575436821	chr18:11512617-11512618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs5823164	chr18:11512618-11512619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34495358	chr18:11512630-11512631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112655653	chr18:11512657-11512658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57861680	chr18:11512668-11512669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182657843	chr18:11512673-11512674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542953454	chr18:11512710-11512711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148036589	chr18:11512715-11512716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143894818	chr18:11512809-11512810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533792236	chr18:11512822-11512823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73407238	chr18:11512933-11512934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564514941	chr18:11512949-11512950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576849887	chr18:11512984-11512985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565185705	chr18:11513024-11513025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187540212	chr18:11513036-11513037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544355672	chr18:11513074-11513075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11502600-11513200	Weak transcription	NHDF-Ad	bronchial
2	chr18:11511600-11512600	Flanking Active TSS	GM12878-XiMat	blood
3	chr18:11511800-11512200	Flanking Active TSS	Fetal Thymus	thymus
4	chr18:11511800-11512400	Enhancers	Primary B cells from peripheral blood	blood
5	chr18:11511800-11512400	Flanking Active TSS	Dnd41	blood
6	chr18:11511800-11512800	Enhancers	Thymus	Thymus
7	chr18:11511800-11513400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr18:11512000-11512400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:11512000-11512800	Enhancers	HepG2	liver
10	chr18:11512000-11513200	Enhancers	Hela-S3	cervix
11	chr18:11512200-11512400	Enhancers	Fetal Lung	lung
12	chr18:11512200-11512400	Enhancers	Right Atrium	heart
13	chr18:11512200-11513000	Enhancers	Fetal Thymus	thymus
14	chr18:11512200-11513400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr18:11512400-11513200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr18:11512400-11513200	Weak transcription	Fetal Lung	lung
17	chr18:11512400-11513400	Enhancers	Dnd41	blood
18	chr18:11512400-11520600	Weak transcription	Right Atrium	heart
19	chr18:11512600-11513200	Enhancers	GM12878-XiMat	blood
20	chr18:11512800-11513000	Enhancers	Fetal Muscle Leg	muscle
21	chr18:11512800-11514000	Weak transcription	HepG2	liver
22	chr18:11512800-11514200	Weak transcription	Thymus	Thymus
23	chr18:11513000-11514400	Weak transcription	Fetal Thymus	thymus
24	chr18:11513000-11517000	Weak transcription	Fetal Muscle Leg	muscle

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