Variant report

Variant	esv3441427
Chromosome Location	chr21:14340430-14344101
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 594 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201118932	chr21:14340438-14340439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372453755	chr21:14340445-14340446	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62222555	chr21:14340454-14340455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544740164	chr21:14340455-14340456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563293600	chr21:14340462-14340463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146239960	chr21:14340464-14340465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201617738	chr21:14340472-14340473	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112768253	chr21:14340475-14340476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532350612	chr21:14340490-14340491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113456134	chr21:14340497-14340498	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11507994	chr21:14340500-14340501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201415449	chr21:14340501-14340502	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552158738	chr21:14340511-14340512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565616981	chr21:14340513-14340514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142041579	chr21:14340520-14340521	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112137453	chr21:14340536-14340537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200813498	chr21:14340539-14340540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528401976	chr21:14340541-14340542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547770650	chr21:14340544-14340545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78923772	chr21:14340546-14340547	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199985303	chr21:14340555-14340556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62222556	chr21:14340556-14340557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567763271	chr21:14340557-14340558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190238789	chr21:14340572-14340573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77720622	chr21:14340587-14340588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536700000	chr21:14340609-14340610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557030801	chr21:14340615-14340616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199850983	chr21:14340618-14340619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570925256	chr21:14340622-14340623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62222557	chr21:14340623-14340624	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79030407	chr21:14340627-14340628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs465421	chr21:14340641-14340642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553321927	chr21:14340642-14340643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573562701	chr21:14340644-14340645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112027825	chr21:14340649-14340650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200758896	chr21:14340652-14340653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536195311	chr21:14340661-14340662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555795955	chr21:14340670-14340671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77657647	chr21:14340674-14340675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78356028	chr21:14340687-14340688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575712740	chr21:14340693-14340694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75119892	chr21:14340701-14340702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75356467	chr21:14340707-14340708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79413136	chr21:14340711-14340712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113300816	chr21:14340738-14340739	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74577200	chr21:14340759-14340760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564625653	chr21:14340771-14340772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201016382	chr21:14340784-14340785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545962900	chr21:14340785-14340786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112396524	chr21:14340794-14340795	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:55 , 50 per page) page: 1 2

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
39	chr21:14342800-14343600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
44	chr21:14343200-14343600	Active TSS	Right Atrium	heart
45	chr21:14343200-14343600	ZNF genes & repeats	HSMMtube	muscle
46	chr21:14343200-14343600	ZNF genes & repeats	NH-A	brain
47	chr21:14343200-14343800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
48	chr21:14343200-14343800	ZNF genes & repeats	Aorta	Aorta
49	chr21:14343200-14343800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
50	chr21:14343200-14343800	ZNF genes & repeats	GM12878-XiMat	blood

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