Variant report

Variant	esv3455213
Chromosome Location	chr21:39911463-39917193
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	chr21:39891980..39894593-chr21:39911478..39913659,2	K562	blood:

Extended variants
information (count: 216 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544398047	chr21:39911467-39911468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566003006	chr21:39911474-39911475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73438148	chr21:39911492-39911493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8130080	chr21:39911519-39911520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551953458	chr21:39911535-39911536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565668163	chr21:39911576-39911577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567308562	chr21:39911577-39911578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8133401	chr21:39911622-39911623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs139069590	chr21:39911637-39911638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537006101	chr21:39911654-39911655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544960622	chr21:39911665-39911666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181648744	chr21:39911671-39911672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13049491	chr21:39911689-39911690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563630710	chr21:39911707-39911708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553581490	chr21:39911717-39911718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141408010	chr21:39911731-39911732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542554079	chr21:39911741-39911742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556065665	chr21:39911743-39911744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575549524	chr21:39911751-39911752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544552107	chr21:39911803-39911804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368914218	chr21:39911818-39911819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398036434	chr21:39911838-39911839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185923577	chr21:39911860-39911861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150862879	chr21:39911862-39911863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533447547	chr21:39911971-39911972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139306133	chr21:39911972-39911973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536128395	chr21:39911996-39911997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189727498	chr21:39912051-39912052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530615870	chr21:39912103-39912104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528243883	chr21:39912109-39912110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114842948	chr21:39912214-39912215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1888475	chr21:39912467-39912468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs58284799	chr21:39912560-39912561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115040471	chr21:39912561-39912562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181282548	chr21:39912604-39912605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371800515	chr21:39912812-39912813	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529301572	chr21:39912841-39912842	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2836490	chr21:39912850-39912851	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4519618	chr21:39912870-39912871	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185913565	chr21:39912906-39912907	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567089096	chr21:39912907-39912908	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536004985	chr21:39912909-39912910	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147264633	chr21:39912923-39912924	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555792606	chr21:39912924-39912925	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373293161	chr21:39912936-39912937	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9980455	chr21:39912958-39912959	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9981003	chr21:39912961-39912962	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558118785	chr21:39912983-39912984	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375931958	chr21:39913007-39913008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2836491	chr21:39913016-39913017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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 myeloid leukemia	20729466	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
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39911200-39912600	Weak transcription	Aorta	Aorta
2	chr21:39911200-39935200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:39912200-39913000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:39912600-39912800	Enhancers	Aorta	Aorta
5	chr21:39912800-39913000	Genic enhancers	Aorta	Aorta
6	chr21:39913000-39917600	Weak transcription	Aorta	Aorta
7	chr21:39914600-39915400	Enhancers	Fetal Stomach	stomach
8	chr21:39915400-39915800	Weak transcription	Fetal Stomach	stomach
9	chr21:39915800-39918200	Enhancers	Fetal Stomach	stomach
10	chr21:39916600-39917600	Enhancers	HepG2	liver

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