Variant report

Variant	esv1956970
Chromosome Location	chr18:11521294-11521632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546111698	chr18:11521308-11521309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564677404	chr18:11521322-11521323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184986858	chr18:11521336-11521337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60298221	chr18:11521361-11521362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562364068	chr18:11521402-11521403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7232754	chr18:11521418-11521419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58674932	chr18:11521419-11521420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs111430912	chr18:11521421-11521422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111229677	chr18:11521427-11521428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539490458	chr18:11521453-11521454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372334505	chr18:11521457-11521458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113938586	chr18:11521461-11521462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112841713	chr18:11521470-11521471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112065323	chr18:11521491-11521492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373157381	chr18:11521495-11521496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533846487	chr18:11521503-11521504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111307968	chr18:11521525-11521526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113638259	chr18:11521529-11521530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12956272	chr18:11521538-11521539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs494486	chr18:11521559-11521560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs567215925	chr18:11521562-11521563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78588122	chr18:11521563-11521564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35187117	chr18:11521583-11521584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371020224	chr18:11521593-11521594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112209887	chr18:11521615-11521616	Weak transcription Enhancers	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11518200-11523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr18:11519000-11523000	Weak transcription	Hela-S3	cervix
3	chr18:11519200-11523600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:11519200-11532800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:11519600-11529200	Weak transcription	Fetal Lung	lung
6	chr18:11520600-11521800	Enhancers	HSMM	muscle
7	chr18:11520800-11523600	Weak transcription	Osteobl	bone
8	chr18:11520800-11524000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:11521200-11522600	Weak transcription	HSMMtube	muscle
10	chr18:11521200-11522800	Weak transcription	NH-A	brain

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