Variant report

Variant	esv11295
Chromosome Location	chr21:14338455-14368624
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: 4445 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:4445 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200476828	chr21:14338477-14338478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73337037	chr21:14338479-14338480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78448035	chr21:14338488-14338489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200251583	chr21:14338493-14338494	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185769463	chr21:14338506-14338507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188692131	chr21:14338509-14338510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560045973	chr21:14338517-14338518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76178752	chr21:14338521-14338522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528904437	chr21:14338528-14338529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549064113	chr21:14338532-14338533	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77378364	chr21:14338542-14338543	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562591878	chr21:14338548-14338549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199747484	chr21:14338552-14338553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74802909	chr21:14338553-14338554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62222479	chr21:14338555-14338556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201335969	chr21:14338559-14338560	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112758606	chr21:14338561-14338562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28769400	chr21:14338569-14338570	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531459955	chr21:14338570-14338571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551932676	chr21:14338584-14338585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111674469	chr21:14338595-14338596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112388576	chr21:14338601-14338602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571791599	chr21:14338604-14338605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527987525	chr21:14338614-14338615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113172081	chr21:14338625-14338626	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547780702	chr21:14338626-14338627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567283628	chr21:14338638-14338639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199845564	chr21:14338641-14338642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556211913	chr21:14338644-14338645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569793444	chr21:14338650-14338651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538796811	chr21:14338652-14338653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138816621	chr21:14338661-14338662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554506480	chr21:14338672-14338673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557928381	chr21:14338685-14338686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577764474	chr21:14338694-14338695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540479556	chr21:14338726-14338727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62222480	chr21:14338727-14338728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554121821	chr21:14338731-14338732	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375330180	chr21:14338732-14338733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573650002	chr21:14338735-14338736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200064001	chr21:14338740-14338741	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201366677	chr21:14338743-14338744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531427292	chr21:14338747-14338748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111650367	chr21:14338758-14338759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201979125	chr21:14338774-14338775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62222481	chr21:14338775-14338776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544826563	chr21:14338786-14338787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62222482	chr21:14338791-14338792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112297512	chr21:14338795-14338796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62222483	chr21:14338811-14338812	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:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14337200-14339000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr21:14338200-14339400	ZNF genes & repeats	A549	lung
3	chr21:14338200-14345600	ZNF genes & repeats	Liver	Liver
4	chr21:14338200-14346000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:14338200-14346000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr21:14338400-14339600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:14338400-14347000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:14338600-14339400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:14338600-14339400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
12	chr21:14338600-14339600	ZNF genes & repeats	Fetal Brain Male	brain
13	chr21:14338800-14339400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr21:14338800-14339600	ZNF genes & repeats	HUVEC	blood vessel
15	chr21:14338800-14342400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:14338800-14342600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr21:14339000-14339200	ZNF genes & repeats	HepG2	liver
19	chr21:14339000-14339400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr21:14339000-14339400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:14339000-14339400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:14339000-14339400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:14339000-14339400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:14339000-14339400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr21:14339000-14339400	Active TSS	Ovary	ovary
26	chr21:14339000-14339400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr21:14339000-14339400	ZNF genes & repeats	Stomach Mucosa	stomach
28	chr21:14339000-14339400	ZNF genes & repeats	HMEC	breast
29	chr21:14339000-14339600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr21:14339200-14339400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
32	chr21:14339200-14339400	ZNF genes & repeats	Colon Smooth Muscle	Colon
33	chr21:14339200-14339400	Flanking Bivalent TSS/Enh	Gastric	stomach
34	chr21:14339200-14339400	ZNF genes & repeats	Left Ventricle	heart
35	chr21:14339200-14339400	ZNF genes & repeats	GM12878-XiMat	blood
36	chr21:14339200-14339400	ZNF genes & repeats	K562	blood
37	chr21:14339200-14339600	ZNF genes & repeats	NH-A	brain
38	chr21:14339400-14340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:14339400-14340800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:14339400-14340800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr21:14339400-14359000	Weak transcription	K562	blood
42	chr21:14339600-14343200	Weak transcription	NH-A	brain
43	chr21:14340200-14341600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
48	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr21:14340800-14341200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
50	chr21:14340800-14341200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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