Variant report

Variant	nsv521068
Chromosome Location	chr21:17664676-17667779
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	chr21:17666188..17668256-chr21:17673895..17675565,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189457	chr21:17664676-17664677	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571689362	chr21:17664694-17664695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2823741	chr21:17664730-17664731	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188274637	chr21:17664774-17664775	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573691935	chr21:17664781-17664782	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117130372	chr21:17664883-17664884	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138335880	chr21:17664893-17664894	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375864385	chr21:17664913-17664914	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs239062	chr21:17664956-17664957	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9305762	chr21:17664957-17664958	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552033587	chr21:17664981-17664982	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550587128	chr21:17664992-17664993	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79708212	chr21:17664997-17664998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192553008	chr21:17665021-17665022	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144232178	chr21:17665025-17665026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183173976	chr21:17665061-17665062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2823742	chr21:17665062-17665063	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187500531	chr21:17665071-17665072	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568448722	chr21:17665097-17665098	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs239063	chr21:17665130-17665131	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192598780	chr21:17665148-17665149	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138835394	chr21:17665236-17665237	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539882380	chr21:17665304-17665305	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371864237	chr21:17665332-17665333	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553544896	chr21:17665352-17665353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142000307	chr21:17665358-17665359	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542076809	chr21:17665429-17665430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114461410	chr21:17665439-17665440	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs239064	chr21:17665452-17665453	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs239065	chr21:17665470-17665471	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564067265	chr21:17665471-17665472	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113545713	chr21:17665514-17665515	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146334467	chr21:17665570-17665571	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs239066	chr21:17665589-17665590	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs376428962	chr21:17665602-17665603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528646628	chr21:17665819-17665820	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184837223	chr21:17665840-17665841	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568581032	chr21:17665895-17665896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190238434	chr21:17665897-17665898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551001933	chr21:17665914-17665915	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570816301	chr21:17665919-17665920	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539496859	chr21:17665951-17665952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553485336	chr21:17665956-17665957	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139904892	chr21:17665972-17665973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192764129	chr21:17665998-17665999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532230554	chr21:17666004-17666005	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575356252	chr21:17666028-17666029	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544484631	chr21:17666088-17666089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557811585	chr21:17666093-17666094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184130453	chr21:17666102-17666103	Strong transcription 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17654800-17666600	Weak transcription	Fetal Heart	heart
3	chr21:17658400-17670200	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:17658600-17674800	Weak transcription	Brain Hippocampus Middle	brain
5	chr21:17658600-17675200	Weak transcription	Ovary	ovary
6	chr21:17658800-17675200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr21:17659600-17674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr21:17659600-17674800	Weak transcription	Brain Substantia Nigra	brain
9	chr21:17659600-17675000	Weak transcription	Brain Angular Gyrus	brain
10	chr21:17659600-17675200	Weak transcription	Adipose Nuclei	Adipose
11	chr21:17663000-17665800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:17664000-17675000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr21:17664200-17666600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:17665800-17666600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:17666600-17667200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:17666600-17667400	Enhancers	Fetal Heart	heart
17	chr21:17666600-17668000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17667000-17667600	Strong transcription	Hela-S3	cervix
19	chr21:17667200-17667400	Enhancers	Psoas Muscle	Psoas
20	chr21:17667200-17667800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:17667400-17677000	Weak transcription	Psoas Muscle	Psoas
22	chr21:17667600-17679800	Weak transcription	Hela-S3	cervix

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