Variant report

Variant	nsv518723
Chromosome Location	chr21:15693476-15696271
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	chr21:15693896..15695521-chr21:15703441..15704959,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSPA13-2	chr21:15694688-15694739	NONHSAT081159
2	lnc-HSPA13-2	chr21:15696178-15696495	NONHSAT081159
3	lnc-RBM11-5	chr21:15695833-15695908	NONHSAT081154

Extended variants
information (count: 28 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1297152	chr21:15693476-15693477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192931441	chr21:15693548-15693549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571428889	chr21:15693550-15693551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533982753	chr21:15693608-15693609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552556135	chr21:15693623-15693624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114210878	chr21:15693647-15693648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9981064	chr21:15693660-15693661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189020123	chr21:15693674-15693675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575462862	chr21:15693677-15693678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62228727	chr21:15693680-15693681	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181776778	chr21:15693754-15693755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577824899	chr21:15693760-15693761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553977348	chr21:15694697-15694698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs567252429	chr21:15694710-15694711	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs536304100	chr21:15694713-15694714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs567376497	chr21:15695845-15695846	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs150254462	chr21:15695861-15695862	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs187314698	chr21:15695875-15695876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs569415890	chr21:15695906-15695907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs2822572	chr21:15696202-15696203	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs577177355	chr21:15696207-15696208	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs546309157	chr21:15696217-15696218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs28531918	chr21:15696231-15696232	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559762068	chr21:15696243-15696244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs34981177	chr21:15696244-15696245	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs397867622	chr21:15696247-15696248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs7279794	chr21:15696265-15696266	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs17002266	chr21:15696271-15696272	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15692800-15693800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:15693200-15693800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:15693200-15693800	Enhancers	HMEC	breast

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