Variant report

Variant	esv3394555
Chromosome Location	chr21:41155393-41157281
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369259861	chr21:41155440-41155441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547772279	chr21:41155445-41155446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1118103	chr21:41155495-41155496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs185724733	chr21:41155512-41155513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190580208	chr21:41155521-41155522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540135967	chr21:41155590-41155591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553504737	chr21:41155636-41155637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573373616	chr21:41155644-41155645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181800849	chr21:41155651-41155652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151026330	chr21:41155702-41155703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185951809	chr21:41155723-41155724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533142308	chr21:41155826-41155827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544268012	chr21:41155901-41155902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77036971	chr21:41155904-41155905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533010578	chr21:41155905-41155906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570137273	chr21:41155908-41155909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375913447	chr21:41155920-41155921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376320152	chr21:41155933-41155934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560257286	chr21:41155961-41155962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137939609	chr21:41155963-41155964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529110790	chr21:41155970-41155971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377416315	chr21:41155978-41155979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537620389	chr21:41155979-41155980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555194996	chr21:41155994-41155995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549237671	chr21:41156010-41156011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188702980	chr21:41156048-41156049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs461583	chr21:41156060-41156061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550516002	chr21:41156162-41156163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140945405	chr21:41156204-41156205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113045022	chr21:41156226-41156227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546814181	chr21:41156260-41156261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16998479	chr21:41156291-41156292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535724280	chr21:41156301-41156302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556017590	chr21:41156315-41156316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575971337	chr21:41156332-41156333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549511635	chr21:41156340-41156341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs464623	chr21:41156516-41156517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs367992190	chr21:41156559-41156560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4337554	chr21:41156580-41156581	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577726100	chr21:41156611-41156612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540305642	chr21:41156624-41156625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560016821	chr21:41156625-41156626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374248046	chr21:41156630-41156631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573776320	chr21:41156636-41156637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185689360	chr21:41156703-41156704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562351376	chr21:41156752-41156753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368965380	chr21:41156776-41156777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531475175	chr21:41156784-41156785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551278841	chr21:41156798-41156799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150200002	chr21:41156801-41156802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	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
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41149400-41160400	Weak transcription	Placenta	Placenta
2	chr21:41155000-41160000	Weak transcription	Fetal Heart	heart
3	chr21:41156400-41156800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr21:41156800-41160800	Weak transcription	Placenta Amnion	Placenta Amnion

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