Variant report

Variant	esv2261067
Chromosome Location	chr18:7029310-7029311
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	chr18:7027159..7030692-chr18:7032107..7035808,3	K562	blood:

Extended variants
information (count: 1 )
Associated
traits (count: 62 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16951046	chr18:7029310-7029311	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

Disease	PMID	Source
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
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
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
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	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
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Breast cancer	17133270	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6995400-7036800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr18:7005000-7051800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:7005200-7041400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:7008800-7031800	Weak transcription	Osteobl	bone
5	chr18:7010400-7037400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:7011800-7036800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:7011800-7037800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:7012200-7034600	Weak transcription	Ovary	ovary
9	chr18:7013200-7052000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr18:7018600-7037400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr18:7019600-7029600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:7019800-7029600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:7020600-7032000	Weak transcription	HMEC	breast
14	chr18:7021200-7038600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:7022000-7033200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:7022200-7038200	Weak transcription	Brain Anterior Caudate	brain
17	chr18:7023600-7032200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr18:7024400-7038600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:7025000-7035000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr18:7025400-7037200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:7026200-7032000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:7026200-7032600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:7026200-7032600	Weak transcription	Fetal Brain Female	brain
24	chr18:7026200-7037000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:7026400-7031400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:7026400-7055000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:7026600-7029400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:7026600-7030200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:7026600-7031200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:7026600-7032000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:7026600-7032000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr18:7026600-7033400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:7026600-7035800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:7026600-7038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:7026800-7031000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr18:7027200-7032000	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:7028600-7030600	Strong transcription	Hela-S3	cervix
38	chr18:7029000-7030400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr18:7029200-7029400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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