Variant report

Variant	esv3433736
Chromosome Location	chr21:15443352-15443915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537428117	chr21:15443376-15443377	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372482730	chr21:15443400-15443401	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79250503	chr21:15443407-15443408	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs368122522	chr21:15443408-15443409	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs13047702	chr21:15443411-15443412	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190871809	chr21:15443423-15443424	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373501699	chr21:15443425-15443426	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs116439583	chr21:15443445-15443446	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113986835	chr21:15443464-15443465	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs117587472	chr21:15443466-15443467	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556670939	chr21:15443469-15443470	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs576641915	chr21:15443470-15443471	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs114161141	chr21:15443511-15443512	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565324513	chr21:15443518-15443519	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs79710705	chr21:15443520-15443521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540113139	chr21:15443538-15443539	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs62209923	chr21:15443574-15443575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs28385573	chr21:15443575-15443576	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs112271465	chr21:15443612-15443613	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34436466	chr21:15443651-15443652	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs547849313	chr21:15443708-15443709	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs71330033	chr21:15443716-15443717	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs375952338	chr21:15443800-15443801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542442654	chr21:15443836-15443837	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs34579485	chr21:15443841-15443842	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs562229570	chr21:15443843-15443844	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531348448	chr21:15443879-15443880	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs79470427	chr21:15443889-15443890	Weak transcription Strong 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:35 , 50 per page) page: 1

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	chr21:15425800-15443400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:15428800-15449000	Weak transcription	Fetal Lung	lung
5	chr21:15437000-15448800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:15442000-15444200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:15442000-15448000	ZNF genes & repeats	Fetal Brain Female	brain
9	chr21:15442000-15448200	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr21:15442200-15444000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr21:15442200-15445200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:15442400-15443800	ZNF genes & repeats	Thymus	Thymus
13	chr21:15442400-15444600	ZNF genes & repeats	Esophagus	oesophagus
14	chr21:15442400-15445800	Strong transcription	Dnd41	blood
15	chr21:15442400-15446200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:15442400-15447800	ZNF genes & repeats	Fetal Stomach	stomach
17	chr21:15442400-15448000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:15442600-15445000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr21:15442600-15445600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:15442600-15446800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:15442600-15447600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr21:15442800-15443600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:15442800-15445600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:15443000-15443400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:15443000-15447400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr21:15443200-15443600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr21:15443200-15445000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:15443400-15443600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:15443400-15444400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:15443400-15445600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr21:15443600-15444000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:15443600-15444400	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr21:15443600-15444600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr21:15443800-15444000	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr21:15443800-15444400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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