Variant report

Variant	esv3403119
Chromosome Location	chr21:14345827-14346940
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561221240	chr21:14345829-14345830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200699281	chr21:14345831-14345832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79559865	chr21:14345837-14345838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62223180	chr21:14345838-14345839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201519309	chr21:14345843-14345844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529985003	chr21:14345856-14345857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79500402	chr21:14345868-14345869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs495965	chr21:14345870-14345871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10439716	chr21:14345871-14345872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10439717	chr21:14345872-14345873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139601956	chr21:14345883-14345884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549748329	chr21:14345891-14345892	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10439718	chr21:14345892-14345893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112301693	chr21:14345908-14345909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113989972	chr21:14345913-14345914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569315830	chr21:14345914-14345915	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376051038	chr21:14345916-14345917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370808092	chr21:14345917-14345918	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538308562	chr21:14345922-14345923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551871461	chr21:14345935-14345936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10439719	chr21:14345938-14345939	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146383949	chr21:14345949-14345950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75166623	chr21:14345952-14345953	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565909423	chr21:14345973-14345974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185786236	chr21:14345982-14345983	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78694873	chr21:14345987-14345988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200064653	chr21:14345996-14345997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575072001	chr21:14346019-14346020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537345489	chr21:14346031-14346032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557351261	chr21:14346032-14346033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113051727	chr21:14346048-14346049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577324940	chr21:14346050-14346051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111810093	chr21:14346056-14346057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546290571	chr21:14346076-14346077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559862440	chr21:14346081-14346082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573292308	chr21:14346083-14346084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71307346	chr21:14346085-14346086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541211505	chr21:14346115-14346116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74983442	chr21:14346117-14346118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560972687	chr21:14346121-14346122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79165017	chr21:14346126-14346127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529954764	chr21:14346128-14346129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111772048	chr21:14346130-14346131	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549675750	chr21:14346140-14346141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562912729	chr21:14346142-14346143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111858851	chr21:14346145-14346146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532003257	chr21:14346148-14346149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181245563	chr21:14346151-14346152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551788291	chr21:14346162-14346163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs419773	chr21:14346187-14346188	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	chr21:14338200-14346000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:14338200-14346000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr21:14338400-14347000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr21:14339400-14359000	Weak transcription	K562	blood

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