Variant report

Variant	esv3451312
Chromosome Location	chr21:46007674-46009672
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	chr21:46001819..46004380-chr21:46009202..46011051,3	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587670215	chr21:46007706-46007707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587699778	chr21:46007734-46007735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371828094	chr21:46007758-46007759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587655488	chr21:46007793-46007794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587739607	chr21:46007835-46007836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587615207	chr21:46007844-46007845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375141807	chr21:46007866-46007867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587694882	chr21:46007889-46007890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs463966	chr21:46007904-46007905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs182083632	chr21:46007943-46007944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587650038	chr21:46008045-46008046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142069140	chr21:46008051-46008052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369111	chr21:46008055-46008056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184471949	chr21:46008066-46008067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587695515	chr21:46008095-46008096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9977040	chr21:46008110-46008111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587657304	chr21:46008170-46008171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140199265	chr21:46008175-46008176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587751534	chr21:46008212-46008213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs233287	chr21:46008215-46008216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147625036	chr21:46008237-46008238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs233288	chr21:46008270-46008271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs587640071	chr21:46008279-46008280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587740040	chr21:46008292-46008293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62220885	chr21:46008308-46008309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587615215	chr21:46008378-46008379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587696739	chr21:46008389-46008390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs233289	chr21:46008416-46008417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs587629322	chr21:46008417-46008418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs233290	chr21:46008427-46008428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs587745663	chr21:46008433-46008434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201649908	chr21:46008452-46008453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs233291	chr21:46008453-46008454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190144293	chr21:46008456-46008457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60660580	chr21:46008468-46008469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193249277	chr21:46008524-46008525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs587695699	chr21:46008532-46008533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56250227	chr21:46008553-46008554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56077969	chr21:46008556-46008557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9637185	chr21:46008560-46008561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587753641	chr21:46008562-46008563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376213089	chr21:46008570-46008571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9637186	chr21:46008574-46008575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587650504	chr21:46008576-46008577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201812328	chr21:46008577-46008578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13049180	chr21:46008578-46008579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370884289	chr21:46008581-46008582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs59733114	chr21:46008582-46008583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28843104	chr21:46008583-46008584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61198070	chr21:46008585-46008586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Prostate cancer	18632612	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45998800-46012800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:46000200-46011400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:46002400-46018200	Weak transcription	Right Atrium	heart
4	chr21:46009600-46009800	Enhancers	HepG2	liver

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