Variant report

Variant	esv1830288
Chromosome Location	chr21:15448891-15474325
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1464 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1464 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376923831	chr21:15448902-15448903	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564848182	chr21:15448921-15448922	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62209926	chr21:15448925-15448926	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147498471	chr21:15448935-15448936	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115163942	chr21:15448938-15448939	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2040222	chr21:15449004-15449005	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544130993	chr21:15449011-15449012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs114283226	chr21:15449012-15449013	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192043644	chr21:15449056-15449057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185230103	chr21:15449057-15449058	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566069631	chr21:15449058-15449059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs528454133	chr21:15449070-15449071	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs548219398	chr21:15449081-15449082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142085981	chr21:15449113-15449114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs202159084	chr21:15449119-15449120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs151140276	chr21:15449120-15449121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs3993056	chr21:15449121-15449122	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372909506	chr21:15449135-15449136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567222248	chr21:15449137-15449138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536097703	chr21:15449169-15449170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs563721776	chr21:15449190-15449191	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs556196847	chr21:15449193-15449194	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569802071	chr21:15449209-15449210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs111767328	chr21:15449232-15449233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs75604897	chr21:15449239-15449240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538482531	chr21:15449243-15449244	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558602699	chr21:15449247-15449248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs13049551	chr21:15449251-15449252	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs114088339	chr21:15449256-15449257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs116642426	chr21:15449260-15449261	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572210431	chr21:15449263-15449264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62209927	chr21:15449264-15449265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs62209928	chr21:15449266-15449267	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs34715780	chr21:15449272-15449273	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541022866	chr21:15449274-15449275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12106343	chr21:15449283-15449284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs574495084	chr21:15449297-15449298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs544094935	chr21:15449315-15449316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563850435	chr21:15449318-15449319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532719365	chr21:15449328-15449329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs62209929	chr21:15449345-15449346	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201520158	chr21:15449346-15449347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13049653	chr21:15449349-15449350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs372967535	chr21:15449352-15449353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs62209930	chr21:15449382-15449383	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs574583681	chr21:15449428-15449429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13050691	chr21:15449476-15449477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78896199	chr21:15449478-15449479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376055009	chr21:15449495-15449496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80109924	chr21:15449521-15449522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	20435627	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
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
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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15401800-15452000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
4	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:15444800-15449000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:15445200-15458800	Weak transcription	Right Atrium	heart
8	chr21:15445400-15449200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr21:15445600-15455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:15445800-15454400	Weak transcription	Dnd41	blood
11	chr21:15446000-15449000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:15446200-15449400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:15447200-15449400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:15447400-15449400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:15448800-15449000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:15449000-15449200	ZNF genes & repeats	Fetal Lung	lung
17	chr21:15449000-15452200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:15449000-15452600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:15449400-15451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:15449400-15455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:15451000-15451200	ZNF genes & repeats	NHEK	skin
22	chr21:15451200-15451400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:15451200-15451600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:15451400-15451800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr21:15451600-15452600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:15452000-15453800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:15452000-15458000	ZNF genes & repeats	Fetal Stomach	stomach
28	chr21:15452200-15452800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:15452400-15452600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:15452400-15452800	Enhancers	Esophagus	oesophagus
31	chr21:15452400-15453800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:15452400-15453800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:15452400-15454200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:15452600-15452800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:15452600-15452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:15452600-15453000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:15452600-15453600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr21:15452600-15453600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr21:15452800-15454600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:15452800-15455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:15452800-15455800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:15453000-15454400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr21:15453800-15454600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:15453800-15455400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:15453800-15455400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr21:15454200-15454600	Weak transcription	Esophagus	oesophagus
47	chr21:15454200-15455400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr21:15454400-15454800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:15454400-15457600	ZNF genes & repeats	Dnd41	blood
50	chr21:15454600-15455800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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