Variant report

Variant	nsv119129
Chromosome Location	chr18:30352078-30352085
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 72 )

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	rs147250782	chr18:30352078-30352079	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572915149	chr18:30352079-30352080	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539904699	chr18:30352083-30352084	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30348800-30353600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr18:30349200-30352600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:30349200-30353600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:30349400-30352400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr18:30349400-30352600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr18:30349400-30352600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr18:30349600-30352200	Bivalent/Poised TSS	Small Intestine	intestine
9	chr18:30349600-30352400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr18:30349600-30352400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
11	chr18:30349600-30352600	Bivalent/Poised TSS	Psoas Muscle	Psoas
12	chr18:30349800-30352400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr18:30350200-30352400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:30350200-30352400	Active TSS	HepG2	liver
15	chr18:30350200-30352600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr18:30350200-30352800	Active TSS	Fetal Kidney	kidney
17	chr18:30350600-30352600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr18:30350600-30352600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:30350800-30352400	Active TSS	Aorta	Aorta
20	chr18:30351000-30352400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr18:30351000-30352400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:30351000-30352400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:30351000-30352400	Enhancers	Lung	lung
24	chr18:30351000-30352600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr18:30351200-30352200	Active TSS	Primary B cells from peripheral blood	blood
26	chr18:30351200-30352200	Bivalent/Poised TSS	Colonic Mucosa	Colon
27	chr18:30351200-30352200	Active TSS	Ovary	ovary
28	chr18:30351200-30352200	Bivalent/Poised TSS	NH-A	brain
29	chr18:30351200-30352400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:30351200-30352400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:30351200-30352400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
32	chr18:30351200-30352400	Bivalent/Poised TSS	Esophagus	oesophagus
33	chr18:30351200-30352400	Active TSS	Gastric	stomach
34	chr18:30351200-30352400	Bivalent/Poised TSS	Left Ventricle	heart
35	chr18:30351200-30352600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr18:30351200-30352600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:30351200-30352600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr18:30351200-30352800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr18:30351400-30352200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
40	chr18:30351400-30352200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr18:30351400-30352200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
42	chr18:30351400-30352200	Bivalent/Poised TSS	Thymus	Thymus
43	chr18:30351400-30352400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:30351400-30352400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr18:30351400-30352400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
46	chr18:30351400-30352600	Active TSS	Brain Substantia Nigra	brain
47	chr18:30351400-30353200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr18:30351400-30353400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr18:30351600-30352200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr18:30351600-30352200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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