Variant report

Variant	esv3402249
Chromosome Location	chr21:14348272-14349232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112511442	chr21:14348280-14348281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs375472715	chr21:14348281-14348282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs201549782	chr21:14348282-14348283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375908518	chr21:14348312-14348313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs188925786	chr21:14348314-14348315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs551634726	chr21:14348318-14348319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201222263	chr21:14348323-14348324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs199512945	chr21:14348326-14348327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374267428	chr21:14348328-14348329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368970041	chr21:14348334-14348335	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372152056	chr21:14348335-14348336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs547322725	chr21:14348337-14348338	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs374369630	chr21:14348341-14348342	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs367593018	chr21:14348344-14348345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372126292	chr21:14348350-14348351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376904369	chr21:14348351-14348352	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs369137098	chr21:14348353-14348354	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372525338	chr21:14348354-14348355	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567160244	chr21:14348361-14348362	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535909330	chr21:14348366-14348367	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549487579	chr21:14348379-14348380	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs200349672	chr21:14348385-14348386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569442268	chr21:14348389-14348390	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112632510	chr21:14348392-14348393	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369126770	chr21:14348405-14348406	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs201654504	chr21:14348427-14348428	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs199681400	chr21:14348435-14348436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538833950	chr21:14348440-14348441	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558927394	chr21:14348446-14348447	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200819452	chr21:14348450-14348451	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs572698450	chr21:14348459-14348460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs201664232	chr21:14348479-14348480	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs535013303	chr21:14348483-14348484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199667813	chr21:14348484-14348485	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs369522837	chr21:14348486-14348487	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs375533866	chr21:14348487-14348488	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs370123257	chr21:14348498-14348499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs554911841	chr21:14348499-14348500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs10432765	chr21:14348507-14348508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs574905964	chr21:14348508-14348509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373337029	chr21:14348511-14348512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200694359	chr21:14348515-14348516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111914384	chr21:14348524-14348525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs369033961	chr21:14348531-14348532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543863408	chr21:14348534-14348535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs181631973	chr21:14348538-14348539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs372479207	chr21:14348541-14348542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs113766406	chr21:14348542-14348543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557473372	chr21:14348545-14348546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs376086546	chr21:14348546-14348547	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: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	chr21:14347600-14348400	ZNF genes & repeats	HepG2	liver
6	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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