Variant report

Variant	esv3387769
Chromosome Location	chr21:14363506-14365829
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: 318 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537854660	chr21:14363508-14363509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557969967	chr21:14363512-14363513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs578079873	chr21:14363516-14363517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545665536	chr21:14363520-14363521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559528401	chr21:14363522-14363523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199960022	chr21:14363524-14363525	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78052809	chr21:14363543-14363544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4408803	chr21:14363545-14363546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573096629	chr21:14363559-14363560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542105379	chr21:14363564-14363565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561965914	chr21:14363585-14363586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4616559	chr21:14363586-14363587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530515436	chr21:14363600-14363601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200397001	chr21:14363612-14363613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550589378	chr21:14363613-14363614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564007748	chr21:14363616-14363617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4643623	chr21:14363637-14363638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111694061	chr21:14363638-14363639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201998906	chr21:14363661-14363662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4375955	chr21:14363663-14363664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533074044	chr21:14363673-14363674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4605449	chr21:14363678-14363679	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546397404	chr21:14363682-14363683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566687171	chr21:14363690-14363691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535664509	chr21:14363702-14363703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201566753	chr21:14363717-14363718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549220444	chr21:14363741-14363742	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569258296	chr21:14363755-14363756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537844597	chr21:14363772-14363773	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558167879	chr21:14363782-14363783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113168452	chr21:14363787-14363788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571629609	chr21:14363793-14363794	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111649604	chr21:14363798-14363799	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534271922	chr21:14363806-14363807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554323929	chr21:14363810-14363811	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7509948	chr21:14363814-14363815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59809525	chr21:14363829-14363830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573027276	chr21:14363833-14363834	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200289906	chr21:14363841-14363842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58459923	chr21:14363842-14363843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542091421	chr21:14363853-14363854	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555689567	chr21:14363858-14363859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144686688	chr21:14363863-14363864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145140394	chr21:14363872-14363873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575643023	chr21:14363873-14363874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141341413	chr21:14363881-14363882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148091167	chr21:14363893-14363894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543837945	chr21:14363898-14363899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147273685	chr21:14363900-14363901	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139216509	chr21:14363902-14363903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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

Chromatin state (count:111 , 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	chr21:14358800-14368800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr21:14362800-14365200	Weak transcription	Brain Substantia Nigra	brain
6	chr21:14362800-14365200	Weak transcription	Stomach Mucosa	stomach
7	chr21:14362800-14365200	Weak transcription	K562	blood
8	chr21:14364000-14368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr21:14364200-14364600	Weak transcription	Adipose Nuclei	Adipose
10	chr21:14364800-14365600	ZNF genes & repeats	HepG2	liver
11	chr21:14364800-14369400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
12	chr21:14365000-14365600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr21:14365000-14365600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr21:14365000-14365600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:14365000-14365600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:14365000-14365600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:14365000-14365600	ZNF genes & repeats	Liver	Liver
18	chr21:14365000-14365600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr21:14365000-14368800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr21:14365200-14365400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr21:14365200-14365400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:14365200-14365400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
25	chr21:14365200-14365400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
26	chr21:14365200-14365400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
27	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	Aorta	Aorta
28	chr21:14365200-14365400	ZNF genes & repeats	Esophagus	oesophagus
29	chr21:14365200-14365400	ZNF genes & repeats	Placenta	Placenta
30	chr21:14365200-14365400	Flanking Bivalent TSS/Enh	Ovary	ovary
31	chr21:14365200-14365400	ZNF genes & repeats	Pancreas	Pancrea
32	chr21:14365200-14365400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
33	chr21:14365200-14365400	ZNF genes & repeats	Right Ventricle	heart
34	chr21:14365200-14365400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
35	chr21:14365200-14365400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
36	chr21:14365200-14365400	ZNF genes & repeats	Spleen	Spleen
37	chr21:14365200-14365400	ZNF genes & repeats	HSMMtube	muscle
38	chr21:14365200-14365400	Flanking Active TSS	K562	blood
39	chr21:14365200-14365400	ZNF genes & repeats	NHDF-Ad	bronchial
40	chr21:14365200-14365400	ZNF genes & repeats	NHLF	lung
41	chr21:14365200-14365600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr21:14365200-14365600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
43	chr21:14365200-14365600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:14365200-14365600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:14365200-14365600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
46	chr21:14365200-14365600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:14365200-14365600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:14365200-14365600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:14365200-14365600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr21:14365200-14365600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood

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