Variant report

Variant	nsv979516
Chromosome Location	chr21:14372826-14382365
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568263854	chr21:14379009-14379010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200036647	chr21:14379027-14379028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536907487	chr21:14379048-14379049	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs557262277	chr21:14379065-14379066	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs570347707	chr21:14379099-14379100	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs539444947	chr21:14379114-14379115	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552632657	chr21:14379120-14379121	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs572566381	chr21:14379135-14379136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs467941	chr21:14379152-14379153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535192914	chr21:14379155-14379156	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555502152	chr21:14379179-14379180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs467943	chr21:14379187-14379188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575476358	chr21:14379205-14379206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112794911	chr21:14379243-14379244	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544578091	chr21:14379248-14379249	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs564830896	chr21:14379257-14379258	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs577944063	chr21:14379276-14379277	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540588232	chr21:14379302-14379303	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs374976713	chr21:14379304-14379305	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560496000	chr21:14379306-14379307	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529360575	chr21:14379312-14379313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549507064	chr21:14379354-14379355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370366025	chr21:14379367-14379368	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs202205886	chr21:14379371-14379372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs200574085	chr21:14379376-14379377	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs78551538	chr21:14379392-14379393	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs530779152	chr21:14379416-14379417	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62221799	chr21:14379449-14379450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs4082777	chr21:14379496-14379497	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs550578035	chr21:14379501-14379502	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570755844	chr21:14379506-14379507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376062895	chr21:14379514-14379515	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs539365951	chr21:14379541-14379542	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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	18458336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14379000-14379600	Active TSS	Spleen	Spleen

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