Variant report

Variant	esv3418330
Chromosome Location	chr21:14350581-14350860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs465100	chr21:14350583-14350584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145043963	chr21:14350585-14350586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76578414	chr21:14350591-14350592	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79657134	chr21:14350592-14350593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78917087	chr21:14350593-14350594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76278528	chr21:14350595-14350596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375432797	chr21:14350596-14350597	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73605468	chr21:14350605-14350606	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77491248	chr21:14350606-14350607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76883847	chr21:14350607-14350608	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78568543	chr21:14350616-14350617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75958790	chr21:14350617-14350618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78916442	chr21:14350618-14350619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75027537	chr21:14350619-14350620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74968141	chr21:14350620-14350621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75821617	chr21:14350622-14350623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10439615	chr21:14350627-14350628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78682970	chr21:14350632-14350633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs80250727	chr21:14350634-14350635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112143024	chr21:14350637-14350638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557803180	chr21:14350651-14350652	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79065762	chr21:14350652-14350653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs36151774	chr21:14350653-14350654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577677296	chr21:14350658-14350659	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71257056	chr21:14350662-14350663	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553994039	chr21:14350664-14350665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573987193	chr21:14350667-14350668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62220469	chr21:14350670-14350671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75265947	chr21:14350676-14350677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78296038	chr21:14350677-14350678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77220045	chr21:14350681-14350682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113023318	chr21:14350687-14350688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78282691	chr21:14350691-14350692	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71208269	chr21:14350692-14350693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76386594	chr21:14350697-14350698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77101077	chr21:14350702-14350703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76100135	chr21:14350705-14350706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78629893	chr21:14350708-14350709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73607304	chr21:14350713-14350714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73607303	chr21:14350715-14350716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79959810	chr21:14350719-14350720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79144676	chr21:14350725-14350726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79702315	chr21:14350732-14350733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80139841	chr21:14350735-14350736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4315613	chr21:14350737-14350738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562522068	chr21:14350743-14350744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200465961	chr21:14350759-14350760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs623340	chr21:14350762-14350763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576002031	chr21:14350764-14350765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200905663	chr21:14350773-14350774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
Sudden cardiac death	19188705	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
T-cell lymphomas	19863542	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
Myelofibrosis	22110671	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr21:14339400-14359000	Weak transcription	K562	blood
5	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
7	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links