Variant report

Variant	esv2219573
Chromosome Location	chr21:17943466-17944785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552901348	chr21:17943466-17943467	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2823888	chr21:17943480-17943481	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs58627197	chr21:17943486-17943487	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548318503	chr21:17943530-17943531	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs386816593	chr21:17943550-17943551	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190347571	chr21:17943551-17943552	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs192333073	chr21:17943565-17943566	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183628801	chr21:17943576-17943577	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs188035123	chr21:17943587-17943588	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs535718068	chr21:17943593-17943594	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555616832	chr21:17943619-17943620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs575582199	chr21:17943625-17943626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs552903232	chr21:17943660-17943661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs117389280	chr21:17943661-17943662	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181244211	chr21:17943781-17943782	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs117838018	chr21:17943805-17943806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561680966	chr21:17943810-17943811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530474712	chr21:17943811-17943812	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375511145	chr21:17943822-17943823	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560361945	chr21:17943825-17943826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75364865	chr21:17943831-17943832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35366903	chr21:17943865-17943866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150172286	chr21:17943892-17943893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544644962	chr21:17943936-17943937	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs80121103	chr21:17943961-17943962	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149837572	chr21:17943964-17943965	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186279264	chr21:17943975-17943976	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs551313081	chr21:17944001-17944002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs564841775	chr21:17944024-17944025	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs373328194	chr21:17944050-17944051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527349190	chr21:17944072-17944073	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546808980	chr21:17944100-17944101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs566749508	chr21:17944122-17944123	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs376790741	chr21:17944149-17944150	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs371299075	chr21:17944196-17944197	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374237629	chr21:17944213-17944214	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570753301	chr21:17944217-17944218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73363546	chr21:17944230-17944231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546758475	chr21:17944285-17944286	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs530336650	chr21:17944294-17944295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs78422498	chr21:17944330-17944331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs190338717	chr21:17944358-17944359	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558092063	chr21:17944364-17944365	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181722143	chr21:17944379-17944380	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73369498	chr21:17944412-17944413	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs75512776	chr21:17944522-17944523	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs118174685	chr21:17944525-17944526	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147943970	chr21:17944581-17944582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs542839226	chr21:17944686-17944687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77904206	chr21:17944711-17944712	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
2	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
3	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:17934600-17958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:17936400-17950400	Weak transcription	Adipose Nuclei	Adipose
6	chr21:17936400-17951600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:17936600-17951400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17936600-17951400	Weak transcription	Left Ventricle	heart
9	chr21:17936800-17959400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:17941200-17947000	Enhancers	HSMM	muscle
11	chr21:17941200-17951800	Weak transcription	Fetal Kidney	kidney
12	chr21:17941600-17944000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr21:17941800-17946600	Enhancers	NH-A	brain
14	chr21:17942000-17943600	Enhancers	Brain Hippocampus Middle	brain
15	chr21:17942000-17943600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr21:17942000-17943800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:17942000-17944000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr21:17942000-17944200	Enhancers	HMEC	breast
19	chr21:17942000-17944600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:17942200-17945800	Weak transcription	Right Ventricle	heart
21	chr21:17942200-17950600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:17942400-17945600	Weak transcription	NHDF-Ad	bronchial
23	chr21:17942600-17943800	Enhancers	Rectal Smooth Muscle	rectum
24	chr21:17942800-17943600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr21:17942800-17944400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:17942800-17945000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:17943000-17943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr21:17943000-17943600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:17943000-17950400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr21:17943000-17951400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr21:17943200-17943600	Enhancers	Aorta	Aorta
32	chr21:17943200-17943600	Enhancers	Psoas Muscle	Psoas
33	chr21:17943200-17943600	Active TSS	A549	lung
34	chr21:17943200-17944000	Enhancers	Colon Smooth Muscle	Colon
35	chr21:17943200-17944200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr21:17943200-17944400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr21:17943200-17944400	Enhancers	HUVEC	blood vessel
38	chr21:17943200-17944800	Flanking Active TSS	Osteobl	bone
39	chr21:17943200-17956000	Weak transcription	Hela-S3	cervix
40	chr21:17943400-17944000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr21:17943400-17944200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:17943400-17944200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:17943400-17944600	Enhancers	HSMMtube	muscle
44	chr21:17943600-17944000	Flanking Active TSS	A549	lung
45	chr21:17943600-17945600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr21:17943600-17945800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr21:17943600-17946000	Weak transcription	Psoas Muscle	Psoas
48	chr21:17943600-17946800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:17943800-17944000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr21:17943800-17945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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