Variant report

Variant	esv3375176
Chromosome Location	chr21:14347782-14349247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 197 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148725354	chr21:14347813-14347814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111658642	chr21:14347826-14347827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62223184	chr21:14347830-14347831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145230823	chr21:14347831-14347832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553806968	chr21:14347841-14347842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62223185	chr21:14347844-14347845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112308593	chr21:14347845-14347846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573687457	chr21:14347846-14347847	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377036784	chr21:14347847-14347848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542802945	chr21:14347858-14347859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75420008	chr21:14347860-14347861	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556385915	chr21:14347867-14347868	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75763411	chr21:14347883-14347884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576282609	chr21:14347925-14347926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545305856	chr21:14347933-14347934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565100511	chr21:14347936-14347937	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572427557	chr21:14347963-14347964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200342450	chr21:14347965-14347966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs455573	chr21:14347968-14347969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113460111	chr21:14347969-14347970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75295959	chr21:14347974-14347975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76532325	chr21:14347978-14347979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74500013	chr21:14348010-14348011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562679235	chr21:14348015-14348016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113235204	chr21:14348022-14348023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111757252	chr21:14348025-14348026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531599367	chr21:14348029-14348030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79993238	chr21:14348034-14348035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551718730	chr21:14348035-14348036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199520665	chr21:14348046-14348047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200609701	chr21:14348058-14348059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571477020	chr21:14348062-14348063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201724851	chr21:14348063-14348064	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs438385	chr21:14348075-14348076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533764705	chr21:14348076-14348077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79609776	chr21:14348082-14348083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75301182	chr21:14348089-14348090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs425096	chr21:14348096-14348097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567350689	chr21:14348097-14348098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535945107	chr21:14348100-14348101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113679791	chr21:14348109-14348110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556299343	chr21:14348116-14348117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202147053	chr21:14348121-14348122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200595992	chr21:14348125-14348126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111900371	chr21:14348158-14348159	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538919055	chr21:14348181-14348182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559182870	chr21:14348190-14348191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572685982	chr21:14348197-14348198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4300924	chr21:14348199-14348200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74384891	chr21:14348206-14348207	Weak transcription ZNF genes & repeats	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:10 , 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	chr21:14347400-14348200	ZNF genes & repeats	HUVEC	blood vessel
6	chr21:14347600-14348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:14347600-14348200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr21:14347600-14348400	ZNF genes & repeats	HepG2	liver
9	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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