Variant report

Variant	esv3342159
Chromosome Location	chr21:14340244-14342737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 405 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:405 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57823120	chr21:14340246-14340247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74861786	chr21:14340247-14340248	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs142144143	chr21:14340263-14340264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372528785	chr21:14340265-14340266	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs376471114	chr21:14340267-14340268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs56237055	chr21:14340270-14340271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs369906402	chr21:14340274-14340275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs60031141	chr21:14340278-14340279	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs8134510	chr21:14340279-14340280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs55931421	chr21:14340280-14340281	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs536788736	chr21:14340284-14340285	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs57523238	chr21:14340286-14340287	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs55696616	chr21:14340287-14340288	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200601041	chr21:14340288-14340289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs56270446	chr21:14340291-14340292	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201805563	chr21:14340292-14340293	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373789804	chr21:14340300-14340301	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112487239	chr21:14340304-14340305	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs376212190	chr21:14340307-14340308	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368853869	chr21:14340315-14340316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557266097	chr21:14340318-14340319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs8128512	chr21:14340319-14340320	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs56135715	chr21:14340321-14340322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs202166001	chr21:14340323-14340324	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546142422	chr21:14340329-14340330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112102375	chr21:14340343-14340344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10432859	chr21:14340348-14340349	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553647590	chr21:14340352-14340353	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs184488143	chr21:14340360-14340361	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200883412	chr21:14340364-14340365	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573248776	chr21:14340381-14340382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs71326383	chr21:14340384-14340385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs9977167	chr21:14340386-14340387	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10432861	chr21:14340387-14340388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542225459	chr21:14340401-14340402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80140322	chr21:14340403-14340404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562099496	chr21:14340413-14340414	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150617462	chr21:14340422-14340423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148819912	chr21:14340423-14340424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530896290	chr21:14340424-14340425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531017767	chr21:14340428-14340429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201118932	chr21:14340438-14340439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372453755	chr21:14340445-14340446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62222555	chr21:14340454-14340455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544740164	chr21:14340455-14340456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563293600	chr21:14340462-14340463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146239960	chr21:14340464-14340465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201617738	chr21:14340472-14340473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112768253	chr21:14340475-14340476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532350612	chr21:14340490-14340491	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:38 , 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
19	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
21	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr21:14340800-14341200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
23	chr21:14340800-14341200	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
24	chr21:14340800-14341200	ZNF genes & repeats	Aorta	Aorta
25	chr21:14340800-14341200	ZNF genes & repeats	Fetal Lung	lung
26	chr21:14340800-14341600	ZNF genes & repeats	Fetal Kidney	kidney
27	chr21:14340800-14341800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:14340800-14342000	ZNF genes & repeats	Fetal Heart	heart
29	chr21:14340800-14343800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:14341000-14341600	ZNF genes & repeats	HUVEC	blood vessel
31	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr21:14341400-14342800	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr21:14342200-14342400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr21:14342200-14342400	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr21:14342200-14342400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
37	chr21:14342200-14342600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr21:14342400-14342600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion

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