Variant report

Variant	nsv587665
Chromosome Location	chr21:44703295-44706077
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44702803..44705781-chr21:44760517..44763058,2	MCF-7	breast:
2	chr21:44699022..44704261-chr21:44706186..44710615,5	MCF-7	breast:
3	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
4	chr21:44693342..44695440-chr21:44702341..44704314,2	K562	blood:
5	chr21:44613209..44615263-chr21:44702537..44704678,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs976531	chr21:44703295-44703296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367901604	chr21:44703348-44703349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544038792	chr21:44703352-44703353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371855293	chr21:44703393-44703394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201308791	chr21:44703410-44703411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201726527	chr21:44703436-44703437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200298868	chr21:44703454-44703455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377423190	chr21:44703455-44703456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201003282	chr21:44703457-44703458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112932300	chr21:44703458-44703459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111749710	chr21:44703462-44703463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369255000	chr21:44703467-44703468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201643822	chr21:44703474-44703475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112092927	chr21:44703475-44703476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112963950	chr21:44703476-44703477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199934880	chr21:44703492-44703493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59024589	chr21:44703495-44703496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373254344	chr21:44703508-44703509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199755223	chr21:44703543-44703544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62218874	chr21:44703550-44703551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112443249	chr21:44703558-44703559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62218875	chr21:44703566-44703567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62218876	chr21:44703578-44703579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62218877	chr21:44703591-44703592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372139234	chr21:44703619-44703620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376234195	chr21:44703632-44703633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59829302	chr21:44703644-44703645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201037037	chr21:44703646-44703647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373704530	chr21:44703792-44703793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201430342	chr21:44703802-44703803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111543268	chr21:44703810-44703811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201889242	chr21:44703829-44703830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377153965	chr21:44703860-44703861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138032357	chr21:44704013-44704014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368891424	chr21:44704100-44704101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs764105	chr21:44704118-44704119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199866631	chr21:44704166-44704167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377217935	chr21:44704170-44704171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60128118	chr21:44704211-44704212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58967413	chr21:44704217-44704218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58501601	chr21:44704240-44704241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58343976	chr21:44704247-44704248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12483638	chr21:44704570-44704571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369209571	chr21:44704650-44704651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140706846	chr21:44704667-44704668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549015064	chr21:44704745-44704746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368186104	chr21:44704746-44704747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568708340	chr21:44704820-44704821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372111993	chr21:44704843-44704844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371109621	chr21:44704861-44704862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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 lymphoblastic leukemia	20435627	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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44696800-44709000	Weak transcription	Gastric	stomach
2	chr21:44698400-44707200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:44699400-44707200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44701600-44706000	Weak transcription	Fetal Thymus	thymus
5	chr21:44701600-44706800	Weak transcription	A549	lung
6	chr21:44702400-44706200	Weak transcription	HepG2	liver
7	chr21:44702400-44707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:44703000-44708000	Weak transcription	Brain Germinal Matrix	brain
9	chr21:44705400-44706200	Enhancers	Dnd41	blood
10	chr21:44705800-44707200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:44706000-44706200	Enhancers	Pancreas	Pancrea
12	chr21:44706000-44706400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:44706000-44708800	Enhancers	Fetal Thymus	thymus

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