Variant report

Variant	esv3416457
Chromosome Location	chr21:15458981-15463279
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 251 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572342095	chr21:15459042-15459043	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140695752	chr21:15459045-15459046	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557172764	chr21:15459069-15459070	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7276133	chr21:15459073-15459074	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs62208561	chr21:15459079-15459080	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11909921	chr21:15459120-15459121	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573170059	chr21:15459121-15459122	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4816936	chr21:15459127-15459128	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs9980527	chr21:15459171-15459172	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs9981550	chr21:15459176-15459177	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533041276	chr21:15459192-15459193	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375702006	chr21:15459200-15459201	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs145797357	chr21:15459232-15459233	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs8134447	chr21:15459285-15459286	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs146598262	chr21:15459293-15459294	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184663922	chr21:15459308-15459309	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs372134350	chr21:15459339-15459340	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs377096424	chr21:15459356-15459357	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs35982572	chr21:15459358-15459359	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559955296	chr21:15459364-15459365	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs4630846	chr21:15459368-15459369	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59000260	chr21:15459384-15459385	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371198968	chr21:15459400-15459401	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13048221	chr21:15459436-15459437	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs537382755	chr21:15459455-15459456	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144382325	chr21:15459459-15459460	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60311804	chr21:15459469-15459470	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs67222536	chr21:15459470-15459471	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35074285	chr21:15459472-15459473	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570730373	chr21:15459493-15459494	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550386781	chr21:15459496-15459497	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369907977	chr21:15459497-15459498	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553199252	chr21:15459507-15459508	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56226248	chr21:15459516-15459517	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539765463	chr21:15459523-15459524	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555767837	chr21:15459528-15459529	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189378983	chr21:15459560-15459561	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575690078	chr21:15459566-15459567	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548100304	chr21:15459599-15459600	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13048370	chr21:15459600-15459601	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs13047507	chr21:15459611-15459612	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577121410	chr21:15459642-15459643	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148001022	chr21:15459651-15459652	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559279023	chr21:15459653-15459654	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528229661	chr21:15459672-15459673	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117618891	chr21:15459673-15459674	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141652992	chr21:15459674-15459675	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534732217	chr21:15459702-15459703	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150085926	chr21:15459718-15459719	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138941655	chr21:15459728-15459729	Weak transcription Strong transcription ZNF genes & repeats Enhancers	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:77 , 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	chr21:15457600-15459200	Weak transcription	Fetal Lung	lung
14	chr21:15457600-15459200	Weak transcription	Ovary	ovary
15	chr21:15457600-15459600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:15457600-15460200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:15457600-15460600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr21:15457600-15462400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:15457600-15463800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:15457600-15464000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:15457600-15464800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:15457600-15465200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:15457600-15465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:15457600-15465200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:15457600-15465400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:15457600-15465400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:15457600-15465800	Weak transcription	Hela-S3	cervix
28	chr21:15457600-15470000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:15457600-15470200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:15457600-15470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr21:15457600-15470200	Weak transcription	Adipose Nuclei	Adipose
32	chr21:15457600-15470200	Weak transcription	Esophagus	oesophagus
33	chr21:15457600-15472800	Weak transcription	Fetal Muscle Leg	muscle
34	chr21:15457600-15473800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
36	chr21:15457800-15459200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr21:15457800-15467800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
39	chr21:15458000-15459600	Strong transcription	Brain Germinal Matrix	brain
40	chr21:15458000-15465400	Weak transcription	Fetal Stomach	stomach
41	chr21:15458000-15466000	Weak transcription	Fetal Intestine Small	intestine
42	chr21:15458200-15459400	Strong transcription	Fetal Brain Female	brain
43	chr21:15458600-15459400	Flanking Active TSS	GM12878-XiMat	blood
44	chr21:15458800-15460200	Strong transcription	Dnd41	blood
45	chr21:15459200-15459800	Strong transcription	Ovary	ovary
46	chr21:15459200-15460000	ZNF genes & repeats	Fetal Lung	lung
47	chr21:15459200-15466000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:15459400-15459800	Enhancers	GM12878-XiMat	blood
49	chr21:15459400-15460000	ZNF genes & repeats	Fetal Brain Female	brain
50	chr21:15459600-15460200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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