Variant report

Variant	esv3336537
Chromosome Location	chr21:14346546-14365605
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: 2684 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:2684 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs463458	chr21:14346554-14346555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10432930	chr21:14346573-14346574	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535911327	chr21:14346581-14346582	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201382527	chr21:14346586-14346587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555603252	chr21:14346587-14346588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575723757	chr21:14346601-14346602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375986852	chr21:14346604-14346605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190816090	chr21:14346613-14346614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560485485	chr21:14346620-14346621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182670507	chr21:14346625-14346626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556782255	chr21:14346635-14346636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79363307	chr21:14346641-14346642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576679043	chr21:14346667-14346668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545699062	chr21:14346682-14346683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559266455	chr21:14346684-14346685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528094992	chr21:14346691-14346692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75802550	chr21:14346697-14346698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541837371	chr21:14346721-14346722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77349192	chr21:14346731-14346732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186502827	chr21:14346732-14346733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561612432	chr21:14346738-14346739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530664391	chr21:14346754-14346755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551193582	chr21:14346766-14346767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564674791	chr21:14346767-14346768	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369749649	chr21:14346768-14346769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533626741	chr21:14346773-14346774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546996253	chr21:14346774-14346775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566832670	chr21:14346786-14346787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535462982	chr21:14346787-14346788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76789603	chr21:14346791-14346792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77855712	chr21:14346794-14346795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569004536	chr21:14346797-14346798	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183718022	chr21:14346800-14346801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556696399	chr21:14346802-14346803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190940981	chr21:14346813-14346814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71326384	chr21:14346821-14346822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376088216	chr21:14346822-14346823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs9637142	chr21:14346835-14346836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs463516	chr21:14346844-14346845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539319600	chr21:14346859-14346860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552970179	chr21:14346862-14346863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573125871	chr21:14346882-14346883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541450576	chr21:14346890-14346891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561771203	chr21:14346906-14346907	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377290034	chr21:14346907-14346908	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575363655	chr21:14346915-14346916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369839927	chr21:14346920-14346921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544335487	chr21:14346921-14346922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564636717	chr21:14346933-14346934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533589984	chr21:14346934-14346935	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:144 , 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	chr21:14338400-14347000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr21:14339400-14359000	Weak transcription	K562	blood
6	chr21:14347400-14348200	ZNF genes & repeats	HUVEC	blood vessel
7	chr21:14347600-14348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:14347600-14348200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr21:14347600-14348400	ZNF genes & repeats	HepG2	liver
10	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:14349600-14350400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
14	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr21:14350000-14350400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:14353400-14355400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr21:14354200-14359600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr21:14354600-14356000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr21:14354600-14369200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:14357600-14368800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
21	chr21:14358200-14361200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr21:14358400-14360000	ZNF genes & repeats	Psoas Muscle	Psoas
23	chr21:14358600-14362800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:14358800-14359400	ZNF genes & repeats	NH-A	brain
25	chr21:14358800-14368800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr21:14359000-14359200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:14359000-14359400	ZNF genes & repeats	K562	blood
28	chr21:14359200-14359400	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:14359200-14359400	ZNF genes & repeats	Primary T cells from cord blood	blood
30	chr21:14359400-14360400	Weak transcription	NH-A	brain
31	chr21:14359800-14363000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr21:14360400-14360800	ZNF genes & repeats	NH-A	brain
33	chr21:14360400-14361000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr21:14360600-14361400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr21:14362400-14362800	ZNF genes & repeats	Liver	Liver
36	chr21:14362400-14362800	ZNF genes & repeats	Fetal Heart	heart
37	chr21:14362600-14362800	ZNF genes & repeats	Stomach Mucosa	stomach
38	chr21:14362600-14362800	ZNF genes & repeats	K562	blood
39	chr21:14362800-14365200	Weak transcription	Brain Substantia Nigra	brain
40	chr21:14362800-14365200	Weak transcription	Stomach Mucosa	stomach
41	chr21:14362800-14365200	Weak transcription	K562	blood
42	chr21:14364000-14368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr21:14364200-14364600	Weak transcription	Adipose Nuclei	Adipose
44	chr21:14364800-14365600	ZNF genes & repeats	HepG2	liver
45	chr21:14364800-14369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr21:14365000-14365600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr21:14365000-14365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
48	chr21:14365000-14365600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr21:14365000-14365600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr21:14365000-14365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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