Variant report

Variant	esv3387926
Chromosome Location	chr21:15459731-15462529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372768431	chr21:15459742-15459743	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570766695	chr21:15459746-15459747	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539647137	chr21:15459754-15459755	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117787046	chr21:15459769-15459770	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142844996	chr21:15459772-15459773	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9981120	chr21:15459789-15459790	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116344414	chr21:15459795-15459796	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575728097	chr21:15459804-15459805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538203804	chr21:15459847-15459848	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs8131959	chr21:15459848-15459849	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577259152	chr21:15459883-15459884	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs545767998	chr21:15459909-15459910	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs182076916	chr21:15459919-15459920	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs537521827	chr21:15459930-15459931	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs73151525	chr21:15459942-15459943	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371154549	chr21:15459967-15459968	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541927310	chr21:15460001-15460002	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs8132276	chr21:15460075-15460076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377631546	chr21:15460122-15460123	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185272541	chr21:15460134-15460135	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs371077630	chr21:15460135-15460136	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs8130626	chr21:15460141-15460142	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs139629368	chr21:15460192-15460193	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533716373	chr21:15460240-15460241	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368208167	chr21:15460252-15460253	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546957399	chr21:15460256-15460257	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143614005	chr21:15460288-15460289	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529435210	chr21:15460303-15460304	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549468533	chr21:15460307-15460308	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569329484	chr21:15460323-15460324	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538340678	chr21:15460325-15460326	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144300819	chr21:15460372-15460373	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571651393	chr21:15460410-15460411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539747062	chr21:15460412-15460413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368939834	chr21:15460417-15460418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371342355	chr21:15460423-15460424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375907578	chr21:15460425-15460426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368812903	chr21:15460428-15460429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76829077	chr21:15460432-15460433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369125099	chr21:15460437-15460438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75106890	chr21:15460438-15460439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373052583	chr21:15460441-15460442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377581905	chr21:15460442-15460443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76014736	chr21:15460445-15460446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77561977	chr21:15460448-15460449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369110251	chr21:15460451-15460452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373300250	chr21:15460452-15460453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190613343	chr21:15460453-15460454	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376825887	chr21:15460460-15460461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371172401	chr21:15460470-15460471	Weak transcription Strong 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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:15455800-15460200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
5	chr21:15456000-15470000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr21:15456400-15462000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:15456800-15470200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:15457000-15467600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:15457400-15461000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr21:15457400-15463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr21:15457400-15464000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:15457400-15465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:15457600-15460200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:15457600-15460600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr21:15457600-15462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr21:15457600-15463800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr21:15457600-15464000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:15457600-15464800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:15457600-15465200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:15457600-15465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:15457600-15465200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:15457600-15465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:15457600-15465400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr21:15457600-15465800	Weak transcription	Hela-S3	cervix
25	chr21:15457600-15470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr21:15457600-15470200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr21:15457600-15470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:15457600-15470200	Weak transcription	Adipose Nuclei	Adipose
29	chr21:15457600-15470200	Weak transcription	Esophagus	oesophagus
30	chr21:15457600-15472800	Weak transcription	Fetal Muscle Leg	muscle
31	chr21:15457600-15473800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
33	chr21:15457800-15467800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
35	chr21:15458000-15465400	Weak transcription	Fetal Stomach	stomach
36	chr21:15458000-15466000	Weak transcription	Fetal Intestine Small	intestine
37	chr21:15458800-15460200	Strong transcription	Dnd41	blood
38	chr21:15459200-15459800	Strong transcription	Ovary	ovary
39	chr21:15459200-15460000	ZNF genes & repeats	Fetal Lung	lung
40	chr21:15459200-15466000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:15459400-15459800	Enhancers	GM12878-XiMat	blood
42	chr21:15459400-15460000	ZNF genes & repeats	Fetal Brain Female	brain
43	chr21:15459600-15460200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr21:15459600-15469000	Weak transcription	Brain Germinal Matrix	brain
45	chr21:15459800-15460200	ZNF genes & repeats	GM12878-XiMat	blood
46	chr21:15459800-15470200	Weak transcription	Ovary	ovary
47	chr21:15460000-15464400	Weak transcription	Fetal Brain Female	brain
48	chr21:15460000-15470200	Weak transcription	Fetal Lung	lung
49	chr21:15460200-15460400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:15460200-15462000	Weak transcription	GM12878-XiMat	blood

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