Variant report

Variant	esv3383833
Chromosome Location	chr21:14360347-14360628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTED-14	chr21:14360481-14360606	NONHSAT081091

Extended variants
information (count: 40 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373618588	chr21:14360349-14360350	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534207269	chr21:14360367-14360368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78378072	chr21:14360369-14360370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79755975	chr21:14360383-14360384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75774115	chr21:14360384-14360385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112471528	chr21:14360389-14360390	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553929859	chr21:14360391-14360392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574119392	chr21:14360396-14360397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541644890	chr21:14360397-14360398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75698894	chr21:14360400-14360401	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561893983	chr21:14360408-14360409	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs146513827	chr21:14360413-14360414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78231978	chr21:14360417-14360418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140659825	chr21:14360437-14360438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs77425829	chr21:14360454-14360455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs111461795	chr21:14360457-14360458	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141213702	chr21:14360464-14360465	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs544487114	chr21:14360491-14360492	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376419698	chr21:14360492-14360493	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs377067152	chr21:14360494-14360495	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
21	rs371364060	chr21:14360495-14360496	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2310538	chr21:14360509-14360510	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs374879260	chr21:14360514-14360515	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574487262	chr21:14360515-14360516	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
25	rs201481039	chr21:14360520-14360521	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
26	rs564383977	chr21:14360523-14360524	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
27	rs199788248	chr21:14360525-14360526	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
28	rs113963173	chr21:14360562-14360563	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
29	rs201321604	chr21:14360563-14360564	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
30	rs546618707	chr21:14360567-14360568	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
31	rs199980528	chr21:14360570-14360571	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
32	rs559980729	chr21:14360575-14360576	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs111843971	chr21:14360587-14360588	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs150275681	chr21:14360590-14360591	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs143000487	chr21:14360592-14360593	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs529016027	chr21:14360596-14360597	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs36125073	chr21:14360603-14360604	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs549142537	chr21:14360605-14360606	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs569079733	chr21:14360624-14360625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538064058	chr21:14360627-14360628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr21:14354600-14369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:14357600-14368800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr21:14358200-14361200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr21:14358600-14362800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:14358800-14368800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr21:14359400-14360400	Weak transcription	NH-A	brain
8	chr21:14359800-14363000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:14360400-14360800	ZNF genes & repeats	NH-A	brain
10	chr21:14360400-14361000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
11	chr21:14360600-14361400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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