Variant report

Variant	esv3340029
Chromosome Location	chr21:14343642-14345113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 253 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376257920	chr21:14343644-14343645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373758310	chr21:14343661-14343662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76594258	chr21:14343667-14343668	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575686686	chr21:14343674-14343675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544381945	chr21:14343686-14343687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111418626	chr21:14343688-14343689	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9975768	chr21:14343700-14343701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9975771	chr21:14343711-14343712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4066559	chr21:14343714-14343715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202178878	chr21:14343715-14343716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199903080	chr21:14343725-14343726	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201234942	chr21:14343729-14343730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545662127	chr21:14343734-14343735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199982139	chr21:14343742-14343743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371320049	chr21:14343743-14343744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559199729	chr21:14343744-14343745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528403971	chr21:14343745-14343746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200935536	chr21:14343764-14343765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541798632	chr21:14343773-14343774	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561574135	chr21:14343780-14343781	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530581710	chr21:14343783-14343784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201877262	chr21:14343789-14343790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550414370	chr21:14343791-14343792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112768491	chr21:14343812-14343813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185426346	chr21:14343827-14343828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571024338	chr21:14343844-14343845	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111677515	chr21:14343845-14343846	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113614511	chr21:14343847-14343848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547246635	chr21:14343870-14343871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112340268	chr21:14343874-14343875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75193410	chr21:14343882-14343883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535815982	chr21:14343893-14343894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76006474	chr21:14343930-14343931	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77703960	chr21:14343931-14343932	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74517360	chr21:14343932-14343933	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80134727	chr21:14343933-14343934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370490400	chr21:14343934-14343935	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201613474	chr21:14343940-14343941	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569165267	chr21:14343944-14343945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538301070	chr21:14343947-14343948	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199500731	chr21:14343958-14343959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200332903	chr21:14343960-14343961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79393606	chr21:14343962-14343963	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77142338	chr21:14343966-14343967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78193473	chr21:14343968-14343969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188342226	chr21:14343969-14343970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191964373	chr21:14343976-14343977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184208972	chr21:14343979-14343980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373643699	chr21:14343986-14343987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78696015	chr21:14343990-14343991	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:37 , 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	chr21:14338800-14350800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr21:14339000-14345600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr21:14339400-14359000	Weak transcription	K562	blood
10	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
14	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr21:14340800-14343800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
22	chr21:14343200-14343800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
23	chr21:14343200-14343800	ZNF genes & repeats	Aorta	Aorta
24	chr21:14343200-14343800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
25	chr21:14343200-14343800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr21:14343400-14343800	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr21:14343400-14343800	ZNF genes & repeats	Psoas Muscle	Psoas
28	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
30	chr21:14344400-14345200	ZNF genes & repeats	HUVEC	blood vessel
31	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
34	chr21:14344600-14345000	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr21:14344600-14345200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:14344800-14345000	ZNF genes & repeats	Aorta	Aorta
37	chr21:14345000-14345600	Active TSS	Aorta	Aorta

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