Variant report

Variant	nsv913418
Chromosome Location	chr21:17767773-17786219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 868 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17468498	chr21:17767773-17767774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549167921	chr21:17767814-17767815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35862079	chr21:17767815-17767816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs2823777	chr21:17767823-17767824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs118055223	chr21:17767841-17767842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35754888	chr21:17767876-17767877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570943402	chr21:17767900-17767901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2823778	chr21:17767918-17767919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547221816	chr21:17767923-17767924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182066779	chr21:17767962-17767963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535634841	chr21:17768026-17768027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555943948	chr21:17768038-17768039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187160321	chr21:17768062-17768063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117809463	chr21:17768070-17768071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558170508	chr21:17768074-17768075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs578101888	chr21:17768148-17768149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117173480	chr21:17768153-17768154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374515914	chr21:17768174-17768175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574093162	chr21:17768187-17768188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534903254	chr21:17768212-17768213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576693017	chr21:17768229-17768230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9979697	chr21:17768254-17768255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562730862	chr21:17768260-17768261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57935554	chr21:17768285-17768286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144129312	chr21:17768288-17768289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71187534	chr21:17768290-17768291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75573648	chr21:17768291-17768292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201492386	chr21:17768293-17768294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397942509	chr21:17768294-17768295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531486325	chr21:17768297-17768298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551303321	chr21:17768308-17768309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112907611	chr21:17768336-17768337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143633000	chr21:17768355-17768356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191164421	chr21:17768362-17768363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547379473	chr21:17768376-17768377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567217516	chr21:17768391-17768392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536370011	chr21:17768414-17768415	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs183774883	chr21:17768434-17768435	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188313720	chr21:17768446-17768447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538533028	chr21:17768452-17768453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558537803	chr21:17768477-17768478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs578251844	chr21:17768483-17768484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548133147	chr21:17768506-17768507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs2823779	chr21:17768524-17768525	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
45	rs148086974	chr21:17768529-17768530	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs200019742	chr21:17768567-17768568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs370615816	chr21:17768577-17768578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs562332926	chr21:17768628-17768629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541770137	chr21:17768724-17768725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555332590	chr21:17768727-17768728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Gastric cancer	18160780	CNVD
Medullary thyroid carcinoma	18765511	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17761600-17780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17762000-17775000	Weak transcription	Brain Anterior Caudate	brain
3	chr21:17762400-17775000	Weak transcription	Ovary	ovary
4	chr21:17763200-17768800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:17766000-17769600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr21:17767400-17769400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:17768400-17768600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:17769000-17769200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:17769600-17770000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
10	chr21:17769600-17770200	ZNF genes & repeats	Fetal Stomach	stomach
11	chr21:17770000-17772400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr21:17770000-17775200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:17770600-17771000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr21:17771000-17775400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr21:17771400-17791200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:17772400-17773200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr21:17773200-17774800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:17774800-17775400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr21:17775000-17775400	Enhancers	Brain Angular Gyrus	brain
20	chr21:17775000-17775400	Enhancers	Ovary	ovary
21	chr21:17775000-17775600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:17775000-17775600	Enhancers	Brain Anterior Caudate	brain
23	chr21:17775000-17775600	Enhancers	Brain Cingulate Gyrus	brain
24	chr21:17775000-17775600	Enhancers	Brain Substantia Nigra	brain
25	chr21:17775000-17775600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr21:17775000-17775800	Enhancers	Left Ventricle	heart
27	chr21:17775200-17775400	Enhancers	Adipose Nuclei	Adipose
28	chr21:17775200-17775600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:17775400-17782200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr21:17775400-17786600	Weak transcription	Ovary	ovary
31	chr21:17775600-17776800	Weak transcription	Adipose Nuclei	Adipose
32	chr21:17775600-17786000	Weak transcription	Brain Anterior Caudate	brain
33	chr21:17775800-17782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:17776800-17777600	Enhancers	Adipose Nuclei	Adipose
35	chr21:17776800-17778400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr21:17777000-17777200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:17777000-17777600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:17777200-17777600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:17777600-17777800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr21:17777600-17778800	Weak transcription	Adipose Nuclei	Adipose
41	chr21:17778200-17780000	Enhancers	Liver	Liver
42	chr21:17778800-17779000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr21:17778800-17779000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr21:17778800-17779000	Enhancers	Adipose Nuclei	Adipose
45	chr21:17778800-17779000	Enhancers	Psoas Muscle	Psoas
46	chr21:17778800-17779000	Enhancers	Right Atrium	heart
47	chr21:17779000-17780200	Weak transcription	Psoas Muscle	Psoas
48	chr21:17779000-17782000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr21:17779200-17780200	Weak transcription	Right Atrium	heart
50	chr21:17780000-17780200	Enhancers	Osteobl	bone

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