Variant report

Variant	esv6550
Chromosome Location	chr18:11791980-11792173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568083421	chr18:11792003-11792004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571282737	chr18:11792030-11792031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376136255	chr18:11792044-11792045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73946342	chr18:11792066-11792067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569051192	chr18:11792072-11792073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546121315	chr18:11792126-11792127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558078138	chr18:11792132-11792133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535843044	chr18:11792152-11792153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11783400-11829200	Weak transcription	Right Atrium	heart
2	chr18:11785600-11802800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11785800-11805200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:11788000-11792000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr18:11788000-11792000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:11789000-11792000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr18:11789000-11792200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:11789000-11792200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr18:11789400-11807200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr18:11790400-11792000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:11790600-11809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr18:11791200-11792800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr18:11791400-11792000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:11791400-11798000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:11791600-11798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr18:11791800-11792000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr18:11791800-11792000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr18:11791800-11792800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:11791800-11806600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:11792000-11798400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr18:11792000-11798400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr18:11792000-11805800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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