Variant report

Variant	esv3362272
Chromosome Location	chr21:14360551-14368195
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: 1123 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:1123 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113963173	chr21:14360562-14360563	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs201321604	chr21:14360563-14360564	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs546618707	chr21:14360567-14360568	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs199980528	chr21:14360570-14360571	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs559980729	chr21:14360575-14360576	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs111843971	chr21:14360587-14360588	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs150275681	chr21:14360590-14360591	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs143000487	chr21:14360592-14360593	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs529016027	chr21:14360596-14360597	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs36125073	chr21:14360603-14360604	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs549142537	chr21:14360605-14360606	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs569079733	chr21:14360624-14360625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs538064058	chr21:14360627-14360628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200994452	chr21:14360631-14360632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62221092	chr21:14360638-14360639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571911340	chr21:14360655-14360656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112429922	chr21:14360665-14360666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs74339481	chr21:14360686-14360687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs533931272	chr21:14360691-14360692	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs554172406	chr21:14360692-14360693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75250677	chr21:14360696-14360697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs62221093	chr21:14360704-14360705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574029340	chr21:14360712-14360713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536716776	chr21:14360718-14360719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62221094	chr21:14360737-14360738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs556712038	chr21:14360746-14360747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs575471914	chr21:14360770-14360771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544425746	chr21:14360786-14360787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs564222784	chr21:14360790-14360791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs201539576	chr21:14360798-14360799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs199699150	chr21:14360799-14360800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62221095	chr21:14360802-14360803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577905854	chr21:14360825-14360826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs539828273	chr21:14360828-14360829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113034034	chr21:14360853-14360854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs150032526	chr21:14360873-14360874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs8127233	chr21:14360890-14360891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs528901025	chr21:14360893-14360894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542279353	chr21:14360896-14360897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs562251336	chr21:14360900-14360901	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111746635	chr21:14360902-14360903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531743132	chr21:14360906-14360907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs79193377	chr21:14360908-14360909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs551605192	chr21:14360924-14360925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113186537	chr21:14360934-14360935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs199627002	chr21:14360938-14360939	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs376315675	chr21:14360944-14360945	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79892811	chr21:14360945-14360946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs571832554	chr21:14360965-14360966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4461339	chr21:14360978-14360979	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:148 , 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	chr21:14358200-14361200	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	chr21:14359800-14363000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:14360400-14360800	ZNF genes & repeats	NH-A	brain
9	chr21:14360400-14361000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr21:14360600-14361400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr21:14362400-14362800	ZNF genes & repeats	Liver	Liver
12	chr21:14362400-14362800	ZNF genes & repeats	Fetal Heart	heart
13	chr21:14362600-14362800	ZNF genes & repeats	Stomach Mucosa	stomach
14	chr21:14362600-14362800	ZNF genes & repeats	K562	blood
15	chr21:14362800-14365200	Weak transcription	Brain Substantia Nigra	brain
16	chr21:14362800-14365200	Weak transcription	Stomach Mucosa	stomach
17	chr21:14362800-14365200	Weak transcription	K562	blood
18	chr21:14364000-14368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr21:14364200-14364600	Weak transcription	Adipose Nuclei	Adipose
20	chr21:14364800-14365600	ZNF genes & repeats	HepG2	liver
21	chr21:14364800-14369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr21:14365000-14365600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr21:14365000-14365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr21:14365000-14365600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:14365000-14365600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr21:14365000-14365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:14365000-14365600	ZNF genes & repeats	Liver	Liver
28	chr21:14365000-14365600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr21:14365000-14368800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr21:14365200-14365400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr21:14365200-14365400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:14365200-14365400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr21:14365200-14365400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr21:14365200-14365400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
37	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	Aorta	Aorta
38	chr21:14365200-14365400	ZNF genes & repeats	Esophagus	oesophagus
39	chr21:14365200-14365400	ZNF genes & repeats	Placenta	Placenta
40	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	Ovary	ovary
41	chr21:14365200-14365400	ZNF genes & repeats	Pancreas	Pancrea
42	chr21:14365200-14365400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr21:14365200-14365400	ZNF genes & repeats	Right Ventricle	heart
44	chr21:14365200-14365400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr21:14365200-14365400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
46	chr21:14365200-14365400	ZNF genes & repeats	Spleen	Spleen
47	chr21:14365200-14365400	ZNF genes & repeats	HSMMtube	muscle
48	chr21:14365200-14365400	Flanking Active TSS	K562	blood
49	chr21:14365200-14365400	ZNF genes & repeats	NHDF-Ad	bronchial
50	chr21:14365200-14365400	ZNF genes & repeats	NHLF	lung

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