Variant report

Variant	esv3424359
Chromosome Location	chr21:14348541-14349133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372479207	chr21:14348541-14348542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs113766406	chr21:14348542-14348543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557473372	chr21:14348545-14348546	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs376086546	chr21:14348546-14348547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577452666	chr21:14348549-14348550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs184835559	chr21:14348551-14348552	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545184676	chr21:14348570-14348571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564934894	chr21:14348571-14348572	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527540114	chr21:14348604-14348605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs540982997	chr21:14348621-14348622	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs560521224	chr21:14348623-14348624	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs200970056	chr21:14348637-14348638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78251533	chr21:14348642-14348643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs74494690	chr21:14348672-14348673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs200068767	chr21:14348680-14348681	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs79643751	chr21:14348682-14348683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76966176	chr21:14348685-14348686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs76567198	chr21:14348691-14348692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201021561	chr21:14348699-14348700	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs529621313	chr21:14348706-14348707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs75758598	chr21:14348717-14348718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs79607365	chr21:14348719-14348720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs75370321	chr21:14348720-14348721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs200252502	chr21:14348737-14348738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569405001	chr21:14348751-14348752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs532123860	chr21:14348756-14348757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs78753608	chr21:14348757-14348758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78821637	chr21:14348764-14348765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552693718	chr21:14348766-14348767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs111246726	chr21:14348771-14348772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs566153889	chr21:14348799-14348800	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs10439643	chr21:14348800-14348801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs462456	chr21:14348801-14348802	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200847477	chr21:14348816-14348817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568803077	chr21:14348819-14348820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200399007	chr21:14348835-14348836	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs112721726	chr21:14348847-14348848	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557436626	chr21:14348862-14348863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs461675	chr21:14348865-14348866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545990577	chr21:14348868-14348869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs558684426	chr21:14348873-14348874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs75297887	chr21:14348876-14348877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs189727423	chr21:14348880-14348881	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs180981329	chr21:14348896-14348897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs572168930	chr21:14348897-14348898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541248715	chr21:14348903-14348904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560835122	chr21:14348908-14348909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs28843995	chr21:14348915-14348916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs529979323	chr21:14348918-14348919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs543013472	chr21:14348921-14348922	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:5 , 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

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