Variant report

Variant	nsv962953
Chromosome Location	chr18:28550392-28552581
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	chr18:28551110..28552005-chr18:28559709..28560335,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138789839	chr18:28550406-28550407	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs372507851	chr18:28550429-28550430	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571747531	chr18:28550502-28550503	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186113084	chr18:28550532-28550533	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190964579	chr18:28550573-28550574	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181364922	chr18:28550605-28550606	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531385938	chr18:28550642-28550643	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs142902610	chr18:28550650-28550651	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561939219	chr18:28550674-28550675	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs530091818	chr18:28550701-28550702	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538005517	chr18:28550726-28550727	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10502555	chr18:28552433-28552434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs142829578	chr18:28552473-28552474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146126656	chr18:28552481-28552482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142535099	chr18:28552550-28552551	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28547600-28550400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:28549600-28550400	Enhancers	NHEK	skin
3	chr18:28549600-28550600	Enhancers	Fetal Brain Male	brain
4	chr18:28549800-28550600	Enhancers	Placenta	Placenta
5	chr18:28550000-28550400	Enhancers	Brain Angular Gyrus	brain
6	chr18:28550000-28550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:28550000-28550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:28550200-28550400	Enhancers	HMEC	breast
9	chr18:28550400-28550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:28550400-28550600	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr18:28550400-28550600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr18:28550400-28550800	Enhancers	Liver	Liver
13	chr18:28550400-28550800	Flanking Active TSS	A549	lung
14	chr18:28550400-28550800	Flanking Active TSS	HMEC	breast
15	chr18:28550400-28550800	Flanking Active TSS	NHEK	skin
16	chr18:28552400-28552600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr18:28552400-28552800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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