Variant report

Variant	esv3408312
Chromosome Location	chr21:14362478-14368722
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

Extended variants
information (count: 914 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:914 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537633281	chr21:14362482-14362483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs557622215	chr21:14362483-14362484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs149640792	chr21:14362489-14362490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146575352	chr21:14362500-14362501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs113521236	chr21:14362510-14362511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs372259677	chr21:14362511-14362512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs375323823	chr21:14362515-14362516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577443914	chr21:14362525-14362526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs151185936	chr21:14362528-14362529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544599579	chr21:14362543-14362544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546146311	chr21:14362545-14362546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553637424	chr21:14362553-14362554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs145100063	chr21:14362557-14362558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs199737896	chr21:14362589-14362590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs60434469	chr21:14362593-14362594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs368773204	chr21:14362605-14362606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs142733310	chr21:14362612-14362613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs370574665	chr21:14362613-14362614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs143003208	chr21:14362623-14362624	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs59348443	chr21:14362649-14362650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374880416	chr21:14362650-14362651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs199631150	chr21:14362651-14362652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573106578	chr21:14362652-14362653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541867212	chr21:14362661-14362662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561835690	chr21:14362663-14362664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530943932	chr21:14362678-14362679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4817869	chr21:14362715-14362716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs111416967	chr21:14362724-14362725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543189226	chr21:14362762-14362763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs563307941	chr21:14362774-14362775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199853381	chr21:14362794-14362795	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377357448	chr21:14362801-14362802	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200734269	chr21:14362822-14362823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs459028	chr21:14362831-14362832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367974033	chr21:14362835-14362836	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200045239	chr21:14362838-14362839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200829870	chr21:14362841-14362842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368637066	chr21:14362845-14362846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199774902	chr21:14362846-14362847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372096953	chr21:14362850-14362851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201608891	chr21:14362858-14362859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367605116	chr21:14362859-14362860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371333023	chr21:14362873-14362874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376242722	chr21:14362875-14362876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112682427	chr21:14362878-14362879	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552148971	chr21:14362882-14362883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369166892	chr21:14362885-14362886	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112187377	chr21:14362886-14362887	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149790329	chr21:14362887-14362888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565969804	chr21:14362888-14362889	ZNF genes & repeats Weak transcription	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:149 , 50 per page) page: 1 2 3

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	chr21:14358600-14362800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:14358800-14368800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr21:14359800-14363000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:14362400-14362800	ZNF genes & repeats	Liver	Liver
8	chr21:14362400-14362800	ZNF genes & repeats	Fetal Heart	heart
9	chr21:14362600-14362800	ZNF genes & repeats	Stomach Mucosa	stomach
10	chr21:14362600-14362800	ZNF genes & repeats	K562	blood
11	chr21:14362800-14365200	Weak transcription	Brain Substantia Nigra	brain
12	chr21:14362800-14365200	Weak transcription	Stomach Mucosa	stomach
13	chr21:14362800-14365200	Weak transcription	K562	blood
14	chr21:14364000-14368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr21:14364200-14364600	Weak transcription	Adipose Nuclei	Adipose
16	chr21:14364800-14365600	ZNF genes & repeats	HepG2	liver
17	chr21:14364800-14369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr21:14365000-14365600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr21:14365000-14365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr21:14365000-14365600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:14365000-14365600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:14365000-14365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:14365000-14365600	ZNF genes & repeats	Liver	Liver
24	chr21:14365000-14365600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr21:14365000-14368800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr21:14365200-14365400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr21:14365200-14365400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:14365200-14365400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr21:14365200-14365400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr21:14365200-14365400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
33	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	Aorta	Aorta
34	chr21:14365200-14365400	ZNF genes & repeats	Esophagus	oesophagus
35	chr21:14365200-14365400	ZNF genes & repeats	Placenta	Placenta
36	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	Ovary	ovary
37	chr21:14365200-14365400	ZNF genes & repeats	Pancreas	Pancrea
38	chr21:14365200-14365400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr21:14365200-14365400	ZNF genes & repeats	Right Ventricle	heart
40	chr21:14365200-14365400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr21:14365200-14365400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
42	chr21:14365200-14365400	ZNF genes & repeats	Spleen	Spleen
43	chr21:14365200-14365400	ZNF genes & repeats	HSMMtube	muscle
44	chr21:14365200-14365400	Flanking Active TSS	K562	blood
45	chr21:14365200-14365400	ZNF genes & repeats	NHDF-Ad	bronchial
46	chr21:14365200-14365400	ZNF genes & repeats	NHLF	lung
47	chr21:14365200-14365600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr21:14365200-14365600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
49	chr21:14365200-14365600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:14365200-14365600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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