Variant report

Variant	nsv964543
Chromosome Location	chr21:17296262-17338385
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17326901..17328732-chr21:17328956..17331734,2	K562	blood:
2	chr21:17326901..17328732-chr21:17328956..17331734,2	K562	blood:

Extended variants
information (count: 1018 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1018 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117022373	chr21:17296817-17296818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192480935	chr21:17296862-17296863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376688097	chr21:17296863-17296864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577838618	chr21:17296892-17296893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549560813	chr21:17296895-17296896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569049331	chr21:17296911-17296912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368459594	chr21:17296917-17296918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531698510	chr21:17296976-17296977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369682562	chr21:17296988-17296989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551535485	chr21:17297007-17297008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576944243	chr21:17297028-17297029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118061070	chr21:17297038-17297039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147342780	chr21:17297119-17297120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554485101	chr21:17297130-17297131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567940647	chr21:17297131-17297132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536894573	chr21:17297176-17297177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556787650	chr21:17297178-17297179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373623652	chr21:17297204-17297205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139477382	chr21:17297224-17297225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145078829	chr21:17297228-17297229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147590448	chr21:17297229-17297230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561282295	chr21:17297235-17297236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529927671	chr21:17297241-17297242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543271184	chr21:17297270-17297271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183919300	chr21:17297296-17297297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150074737	chr21:17297325-17297326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562907898	chr21:17297342-17297343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs392203	chr21:17297360-17297361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562148755	chr21:17297367-17297368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530828247	chr21:17297415-17297416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551870809	chr21:17297448-17297449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565222456	chr21:17297466-17297467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367647966	chr21:17297496-17297497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527714865	chr21:17297519-17297520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369109562	chr21:17297520-17297521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188197412	chr21:17297554-17297555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536956715	chr21:17297567-17297568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192611046	chr21:17297584-17297585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550450606	chr21:17297629-17297630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78992750	chr21:17297703-17297704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142393601	chr21:17297718-17297719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558645674	chr21:17297726-17297727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35044177	chr21:17297775-17297776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572042456	chr21:17297811-17297812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534651726	chr21:17297818-17297819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554151357	chr21:17297822-17297823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141728630	chr21:17297904-17297905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543331934	chr21:17297929-17297930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533634611	chr21:17297933-17297934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563210729	chr21:17297954-17297955	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17296800-17300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17300200-17300600	Enhancers	Fetal Brain Male	brain
3	chr21:17300400-17300600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:17300400-17300600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:17300400-17300800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr21:17300400-17301000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr21:17300400-17302200	Enhancers	HSMM	muscle
8	chr21:17300600-17300800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:17300600-17302400	Enhancers	HSMMtube	muscle
10	chr21:17300600-17305800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr21:17300800-17302000	Enhancers	Fetal Heart	heart
12	chr21:17300800-17302000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr21:17300800-17303400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:17301000-17301600	Active TSS	Brain Angular Gyrus	brain
15	chr21:17303400-17303600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:17303600-17304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:17304000-17304600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:17304400-17305800	Enhancers	Fetal Kidney	kidney
19	chr21:17304600-17305600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:17305000-17305200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:17305000-17306000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:17305800-17306000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr21:17305800-17306000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:17305800-17306000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:17315200-17315600	Enhancers	A549	lung
26	chr21:17315200-17316000	Enhancers	HepG2	liver
27	chr21:17315400-17316000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:17315400-17316000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:17315400-17316200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:17315400-17316200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr21:17315600-17316000	Flanking Active TSS	A549	lung
32	chr21:17315800-17316200	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr21:17316000-17316200	Enhancers	A549	lung
34	chr21:17316000-17318600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr21:17316000-17319200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:17318600-17320000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:17319000-17319200	Enhancers	Fetal Lung	lung
38	chr21:17319200-17319800	Weak transcription	Fetal Lung	lung
39	chr21:17319200-17320800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:17319800-17320000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr21:17319800-17320600	Enhancers	Fetal Lung	lung
42	chr21:17320000-17320400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr21:17320000-17320400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:17320000-17320400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr21:17320000-17320400	Active TSS	Brain Hippocampus Middle	brain
46	chr21:17320000-17320400	Enhancers	Brain Substantia Nigra	brain
47	chr21:17320000-17320400	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr21:17320000-17320400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr21:17320000-17320400	Active TSS	Right Atrium	heart
50	chr21:17320000-17320400	Active TSS	Stomach Smooth Muscle	stomach

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