Variant report

Variant	esv3380297
Chromosome Location	chr21:14339819-14340251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201440835	chr21:14339824-14339825	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs368395010	chr21:14339825-14339826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs199682500	chr21:14339830-14339831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs113298574	chr21:14339839-14339840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs370824450	chr21:14339855-14339856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111866305	chr21:14339862-14339863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192743697	chr21:14339866-14339867	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113756974	chr21:14339887-14339888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs199498685	chr21:14339897-14339898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs531056542	chr21:14339901-14339902	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528687278	chr21:14339908-14339909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111252456	chr21:14339913-14339914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113576166	chr21:14339923-14339924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs201770684	chr21:14339947-14339948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372632834	chr21:14339956-14339957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs373723929	chr21:14339959-14339960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200175571	chr21:14339973-14339974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs367593583	chr21:14339974-14339975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561260428	chr21:14339975-14339976	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs372128280	chr21:14339980-14339981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs376914110	chr21:14339983-14339984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs548558143	chr21:14340023-14340024	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201244315	chr21:14340024-14340025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs201662950	chr21:14340030-14340031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569873662	chr21:14340034-14340035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568748620	chr21:14340039-14340040	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs11910018	chr21:14340063-14340064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532303014	chr21:14340065-14340066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs552454715	chr21:14340073-14340074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs370527718	chr21:14340075-14340076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs183519251	chr21:14340108-14340109	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs56949717	chr21:14340109-14340110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs57591720	chr21:14340123-14340124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565505304	chr21:14340127-14340128	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs202138188	chr21:14340128-14340129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200005563	chr21:14340138-14340139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs150876657	chr21:14340142-14340143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs144407484	chr21:14340143-14340144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139929170	chr21:14340144-14340145	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140848600	chr21:14340145-14340146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200845814	chr21:14340153-14340154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs11909626	chr21:14340157-14340158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201177647	chr21:14340161-14340162	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs145599059	chr21:14340167-14340168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs202022627	chr21:14340169-14340170	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs534336969	chr21:14340171-14340172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs142444874	chr21:14340173-14340174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs141932332	chr21:14340179-14340180	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs59410778	chr21:14340189-14340190	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201682804	chr21:14340191-14340192	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:14338200-14345600	ZNF genes & repeats	Liver	Liver
2	chr21:14338200-14346000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr21:14338200-14346000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr21:14338200-14351800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr21:14338200-14363600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr21:14338400-14347000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:14338800-14342400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:14338800-14342600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr21:14339400-14340800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:14339400-14340800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:14339400-14340800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:14339400-14359000	Weak transcription	K562	blood
15	chr21:14339600-14343200	Weak transcription	NH-A	brain
16	chr21:14340200-14341600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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