Variant report

Variant	esv3432966
Chromosome Location	chr21:37994321-37996737
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	chr21:37993760..37996592-chr21:38001803..38004283,2	MCF-7	breast:
2	chr21:37973420..37975043-chr21:37996316..37998941,2	K562	blood:

Extended variants
information (count: 107 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534958607	chr21:37994345-37994346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555001534	chr21:37994348-37994349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs36189803	chr21:37994355-37994356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574728959	chr21:37994392-37994393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571598752	chr21:37994393-37994394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557395193	chr21:37994399-37994400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538279843	chr21:37994420-37994421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373201472	chr21:37994449-37994450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62222803	chr21:37994481-37994482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79809805	chr21:37994501-37994502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550139332	chr21:37994531-37994532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62222804	chr21:37994545-37994546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542069760	chr21:37994564-37994565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11088362	chr21:37994586-37994587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369391632	chr21:37994665-37994666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9977224	chr21:37994695-37994696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181477280	chr21:37994698-37994699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563374036	chr21:37994712-37994713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56277364	chr21:37994757-37994758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552390831	chr21:37994776-37994777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147665519	chr21:37994793-37994794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112688063	chr21:37994819-37994820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567807027	chr21:37994823-37994824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548424560	chr21:37994824-37994825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56272638	chr21:37994865-37994866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185615843	chr21:37994866-37994867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557108304	chr21:37994883-37994884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190799882	chr21:37994937-37994938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181592559	chr21:37994938-37994939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573002102	chr21:37994975-37994976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573058453	chr21:37994979-37994980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78842971	chr21:37995076-37995077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555997134	chr21:37995100-37995101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575875730	chr21:37995164-37995165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11701241	chr21:37995174-37995175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185913309	chr21:37995175-37995176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146504371	chr21:37995223-37995224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577189453	chr21:37995228-37995229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191077526	chr21:37995250-37995251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138608035	chr21:37995254-37995255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs118123583	chr21:37995258-37995259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373326605	chr21:37995312-37995313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548110080	chr21:37995349-37995350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369879743	chr21:37995360-37995361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397867853	chr21:37995369-37995370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13051762	chr21:37995386-37995387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550946246	chr21:37995466-37995467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149287879	chr21:37995470-37995471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183712244	chr21:37995492-37995493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553012830	chr21:37995510-37995511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Ovarian cancer	22174824	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Down syndrome	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Hodgkin''s lymphoma	17606441	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37979600-37999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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