Variant report

Variant	nsv827641
Chromosome Location	chr16:48244064-48244705
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	chr16:48242035..48245546-chr16:48247049..48249278,4	K562	blood:
2	chr16:48238882..48241120-chr16:48241985..48244745,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79921801	chr16:48244070-48244071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373329602	chr16:48244095-48244096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573242633	chr16:48244104-48244105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185327644	chr16:48244111-48244112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192125317	chr16:48244135-48244136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531784658	chr16:48244143-48244144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567848517	chr16:48244170-48244171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548555044	chr16:48244214-48244215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541360893	chr16:48244253-48244254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569339941	chr16:48244275-48244276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568575514	chr16:48244295-48244296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183958302	chr16:48244312-48244313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547990863	chr16:48244315-48244316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570992675	chr16:48244319-48244320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186865559	chr16:48244345-48244346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8051016	chr16:48244376-48244377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs569969019	chr16:48244458-48244459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs8051205	chr16:48244485-48244486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs563266165	chr16:48244508-48244509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191502416	chr16:48244549-48244550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574218173	chr16:48244642-48244643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530505375	chr16:48244694-48244695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142824126	chr16:48244695-48244696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375388252	chr16:48244697-48244698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48239400-48245800	Weak transcription	Right Atrium	heart
2	chr16:48239600-48250000	Weak transcription	Pancreas	Pancrea
3	chr16:48241000-48245800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:48241200-48244400	Weak transcription	HMEC	breast
5	chr16:48241600-48244400	Weak transcription	HepG2	liver
6	chr16:48241800-48244400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr16:48243800-48246400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr16:48244000-48245200	Enhancers	Liver	Liver
9	chr16:48244000-48245800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:48244400-48245200	Enhancers	HepG2	liver
11	chr16:48244400-48245800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:48244400-48246000	Enhancers	HMEC	breast

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