Variant report

Variant	esv3432252
Chromosome Location	chr21:14349181-14350482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 169 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs202198919	chr21:14349188-14349189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs528194714	chr21:14349202-14349203	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548799075	chr21:14349206-14349207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs181907166	chr21:14349219-14349220	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562310878	chr21:14349223-14349224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111247922	chr21:14349228-14349229	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs370696547	chr21:14349229-14349230	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551324478	chr21:14349237-14349238	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs10439648	chr21:14349262-14349263	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs375080354	chr21:14349263-14349264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62223189	chr21:14349276-14349277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571145139	chr21:14349283-14349284	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs200264187	chr21:14349286-14349287	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111574391	chr21:14349289-14349290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539415323	chr21:14349294-14349295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546981451	chr21:14349297-14349298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs367998399	chr21:14349307-14349308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs566804593	chr21:14349311-14349312	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs535990338	chr21:14349314-14349315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201421792	chr21:14349331-14349332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10854276	chr21:14349335-14349336	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554331351	chr21:14349338-14349339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574324069	chr21:14349346-14349347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536922655	chr21:14349349-14349350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs556806778	chr21:14349359-14349360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577079786	chr21:14349382-14349383	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113242886	chr21:14349395-14349396	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200603817	chr21:14349412-14349413	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs111642894	chr21:14349413-14349414	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112102266	chr21:14349421-14349422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372215726	chr21:14349428-14349429	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112394619	chr21:14349436-14349437	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs559349550	chr21:14349438-14349439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs369499800	chr21:14349444-14349445	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs74564613	chr21:14349457-14349458	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541980961	chr21:14349460-14349461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs562245921	chr21:14349474-14349475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs531097794	chr21:14349477-14349478	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs199643956	chr21:14349492-14349493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs551211932	chr21:14349495-14349496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs368886136	chr21:14349500-14349501	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200724842	chr21:14349507-14349508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201720560	chr21:14349508-14349509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs564583699	chr21:14349532-14349533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs533680545	chr21:14349539-14349540	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs546673285	chr21:14349544-14349545	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111999636	chr21:14349556-14349557	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs199528549	chr21:14349570-14349571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs535537028	chr21:14349590-14349591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146437224	chr21:14349595-14349596	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	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:14349600-14350400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
9	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:14350000-14350400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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