Variant report

Variant	esv2482974
Chromosome Location	chr18:12780862-12780864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 57 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs67518044	chr18:12780862-12780863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141258943	chr18:12780863-12780864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138779221	chr18:12780864-12780865	Weak transcription	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
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	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12767400-12815800	Weak transcription	Gastric	stomach
2	chr18:12776000-12793600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:12776200-12785800	Weak transcription	Primary T cells from cord blood	blood
4	chr18:12776200-12791600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr18:12776200-12792600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr18:12776200-12793800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr18:12776200-12793800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr18:12776200-12794000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr18:12776200-12800800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr18:12776400-12800000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr18:12776800-12788600	Weak transcription	Dnd41	blood
12	chr18:12776800-12819800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr18:12777400-12791400	Weak transcription	Left Ventricle	heart
14	chr18:12777600-12788600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:12777600-12791800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr18:12777800-12785000	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr18:12777800-12788600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr18:12777800-12791600	Weak transcription	Primary B cells from cord blood	blood
19	chr18:12777800-12791600	Weak transcription	Liver	Liver
20	chr18:12777800-12838200	Weak transcription	Colonic Mucosa	Colon
21	chr18:12778000-12782200	Weak transcription	Thymus	Thymus
22	chr18:12778000-12788600	Weak transcription	Lung	lung
23	chr18:12778000-12792800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr18:12778000-12801200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:12778200-12797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:12779800-12783600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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