Variant report

Variant	nsv126975
Chromosome Location	chr18:197743-197743
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	chr18:196681..199674-chr18:200190..202098,2	K562	blood:
2	chr18:159584..161282-chr18:196677..199436,2	K562	blood:

Extended variants
information (count: 0)
Associated
traits (count: 64 )

No data

Variant related diseases (count:64)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:159600-199000	Weak transcription	Colonic Mucosa	Colon
2	chr18:159800-199200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:160000-203000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr18:160200-210800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:160200-218000	Weak transcription	Stomach Mucosa	stomach
6	chr18:160200-218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:160600-203200	Weak transcription	Psoas Muscle	Psoas
8	chr18:168800-198200	Weak transcription	Spleen	Spleen
9	chr18:171400-199200	Weak transcription	Right Ventricle	heart
10	chr18:174000-198000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr18:178200-210800	Weak transcription	Pancreas	Pancrea
12	chr18:180800-205000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:180800-205400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:181000-210800	Weak transcription	Small Intestine	intestine
15	chr18:182200-199000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr18:182800-200200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:186600-198000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:190200-199000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr18:192000-199400	Weak transcription	A549	lung
20	chr18:192200-199200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr18:192800-205600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr18:193200-218800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:193400-227000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr18:193800-219200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:194200-206000	Weak transcription	Fetal Heart	heart
26	chr18:194600-199000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr18:194800-207400	Strong transcription	Placenta	Placenta
28	chr18:194800-207600	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr18:194800-207800	Strong transcription	Fetal Thymus	thymus
30	chr18:195000-204400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:195000-206400	Strong transcription	NH-A	brain
32	chr18:195000-206600	Strong transcription	NHDF-Ad	bronchial
33	chr18:195000-207200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr18:195000-213400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr18:195200-197800	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr18:195200-201600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr18:195200-206600	Strong transcription	K562	blood
38	chr18:195200-207600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:195200-209400	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr18:195200-231200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr18:195400-197800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:195400-199400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr18:195400-203200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr18:195400-205600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr18:195400-206400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr18:195400-206600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr18:195400-206600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr18:195400-207200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr18:195400-207600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr18:195400-207600	Strong transcription	Fetal Muscle Leg	muscle

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