Variant report

Variant	esv1827538
Chromosome Location	chr21:15446711-15472381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1521 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1521 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185501259	chr21:15446714-15446715	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557068973	chr21:15446718-15446719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570483877	chr21:15446727-15446728	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552720408	chr21:15446767-15446768	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551366501	chr21:15446787-15446788	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539406352	chr21:15446794-15446795	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552737657	chr21:15446819-15446820	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146665817	chr21:15446863-15446864	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73892182	chr21:15446870-15446871	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs150366445	chr21:15446884-15446885	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555655673	chr21:15446892-15446893	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9984654	chr21:15446921-15446922	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544430424	chr21:15446963-15446964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190473275	chr21:15446973-15446974	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114248851	chr21:15446975-15446976	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540619392	chr21:15446976-15446977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565227782	chr21:15446982-15446983	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560243506	chr21:15446984-15446985	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2040221	chr21:15447006-15447007	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548472490	chr21:15447012-15447013	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554974154	chr21:15447045-15447046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530705277	chr21:15447072-15447073	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550831375	chr21:15447083-15447084	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138080896	chr21:15447114-15447115	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539112474	chr21:15447131-15447132	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141041765	chr21:15447157-15447158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566308408	chr21:15447161-15447162	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535102610	chr21:15447163-15447164	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555616983	chr21:15447166-15447167	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115620543	chr21:15447168-15447169	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180736676	chr21:15447176-15447177	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558116092	chr21:15447190-15447191	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144775694	chr21:15447208-15447209	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540329233	chr21:15447209-15447210	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35615400	chr21:15447211-15447212	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4816223	chr21:15447212-15447213	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186086130	chr21:15447220-15447221	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543074304	chr21:15447278-15447279	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561950350	chr21:15447298-15447299	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373214320	chr21:15447309-15447310	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375099131	chr21:15447354-15447355	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189754657	chr21:15447365-15447366	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115084264	chr21:15447383-15447384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371449448	chr21:15447387-15447388	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533165965	chr21:15447401-15447402	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115825641	chr21:15447402-15447403	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112247605	chr21:15447411-15447412	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73892183	chr21:15447417-15447418	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs535067481	chr21:15447426-15447427	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs369456874	chr21:15447477-15447478	Weak transcription ZNF genes & repeats	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:352 , 50 per page) page: 1 2 3 4 5 6 7 8

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	chr21:15437000-15448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr21:15442000-15448000	ZNF genes & repeats	Fetal Brain Female	brain
7	chr21:15442000-15448200	ZNF genes & repeats	Brain Germinal Matrix	brain
8	chr21:15442400-15447800	ZNF genes & repeats	Fetal Stomach	stomach
9	chr21:15442400-15448000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:15442600-15446800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:15442600-15447600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:15443000-15447400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr21:15444600-15447800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:15444800-15449000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:15445200-15447200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:15445200-15458800	Weak transcription	Right Atrium	heart
18	chr21:15445400-15447400	ZNF genes & repeats	Esophagus	oesophagus
19	chr21:15445400-15449200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr21:15445600-15447000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:15445600-15455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:15445800-15454400	Weak transcription	Dnd41	blood
23	chr21:15446000-15449000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:15446200-15449400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:15447000-15448000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:15447200-15449400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:15447400-15448600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:15447400-15449400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:15447600-15448600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:15448800-15449000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:15449000-15449200	ZNF genes & repeats	Fetal Lung	lung
32	chr21:15449000-15452200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:15449000-15452600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:15449400-15451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:15449400-15455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:15451000-15451200	ZNF genes & repeats	NHEK	skin
37	chr21:15451200-15451400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:15451200-15451600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr21:15451400-15451800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr21:15451600-15452600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:15452000-15453800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr21:15452000-15458000	ZNF genes & repeats	Fetal Stomach	stomach
43	chr21:15452200-15452800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr21:15452400-15452600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:15452400-15452800	Enhancers	Esophagus	oesophagus
46	chr21:15452400-15453800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:15452400-15453800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:15452400-15454200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:15452600-15452800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:15452600-15452800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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