Variant report

Variant	esv3354047
Chromosome Location	chr21:14350456-14366629
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	chr21:14365270-14365348	NONHSAT081091
2	lnc-POTED-14	chr21:14360481-14360606	NONHSAT081091

Extended variants
information (count: 2351 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2351 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56365398	chr21:14350469-14350470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201870174	chr21:14350470-14350471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566725906	chr21:14350483-14350484	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535794673	chr21:14350491-14350492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs62220465	chr21:14350504-14350505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144217732	chr21:14350506-14350507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143117362	chr21:14350509-14350510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201094401	chr21:14350515-14350516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201716237	chr21:14350531-14350532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs36185093	chr21:14350547-14350548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548988786	chr21:14350552-14350553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs464064	chr21:14350553-14350554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76754084	chr21:14350559-14350560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80314304	chr21:14350569-14350570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78711359	chr21:14350570-14350571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77939422	chr21:14350571-14350572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201023453	chr21:14350574-14350575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78016093	chr21:14350576-14350577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79598190	chr21:14350577-14350578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs465100	chr21:14350583-14350584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145043963	chr21:14350585-14350586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76578414	chr21:14350591-14350592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79657134	chr21:14350592-14350593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78917087	chr21:14350593-14350594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76278528	chr21:14350595-14350596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375432797	chr21:14350596-14350597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73605468	chr21:14350605-14350606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77491248	chr21:14350606-14350607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76883847	chr21:14350607-14350608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78568543	chr21:14350616-14350617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75958790	chr21:14350617-14350618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78916442	chr21:14350618-14350619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75027537	chr21:14350619-14350620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74968141	chr21:14350620-14350621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75821617	chr21:14350622-14350623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10439615	chr21:14350627-14350628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78682970	chr21:14350632-14350633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80250727	chr21:14350634-14350635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112143024	chr21:14350637-14350638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557803180	chr21:14350651-14350652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79065762	chr21:14350652-14350653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36151774	chr21:14350653-14350654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577677296	chr21:14350658-14350659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71257056	chr21:14350662-14350663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553994039	chr21:14350664-14350665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573987193	chr21:14350667-14350668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62220469	chr21:14350670-14350671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75265947	chr21:14350676-14350677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78296038	chr21:14350677-14350678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77220045	chr21:14350681-14350682	ZNF genes & repeats Weak transcription	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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr21:14339400-14359000	Weak transcription	K562	blood
5	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
7	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:14353400-14355400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr21:14354200-14359600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr21:14354600-14356000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr21:14354600-14369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:14357600-14368800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr21:14358200-14361200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr21:14358400-14360000	ZNF genes & repeats	Psoas Muscle	Psoas
15	chr21:14358600-14362800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:14358800-14359400	ZNF genes & repeats	NH-A	brain
17	chr21:14358800-14368800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr21:14359000-14359200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:14359000-14359400	ZNF genes & repeats	K562	blood
20	chr21:14359200-14359400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:14359200-14359400	ZNF genes & repeats	Primary T cells from cord blood	blood
22	chr21:14359400-14360400	Weak transcription	NH-A	brain
23	chr21:14359800-14363000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:14360400-14360800	ZNF genes & repeats	NH-A	brain
25	chr21:14360400-14361000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr21:14360600-14361400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
27	chr21:14362400-14362800	ZNF genes & repeats	Liver	Liver
28	chr21:14362400-14362800	ZNF genes & repeats	Fetal Heart	heart
29	chr21:14362600-14362800	ZNF genes & repeats	Stomach Mucosa	stomach
30	chr21:14362600-14362800	ZNF genes & repeats	K562	blood
31	chr21:14362800-14365200	Weak transcription	Brain Substantia Nigra	brain
32	chr21:14362800-14365200	Weak transcription	Stomach Mucosa	stomach
33	chr21:14362800-14365200	Weak transcription	K562	blood
34	chr21:14364000-14368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr21:14364200-14364600	Weak transcription	Adipose Nuclei	Adipose
36	chr21:14364800-14365600	ZNF genes & repeats	HepG2	liver
37	chr21:14364800-14369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr21:14365000-14365600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
39	chr21:14365000-14365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr21:14365000-14365600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:14365000-14365600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:14365000-14365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:14365000-14365600	ZNF genes & repeats	Liver	Liver
44	chr21:14365000-14365600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr21:14365000-14368800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr21:14365200-14365400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr21:14365200-14365400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:14365200-14365400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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