Variant report

Variant	esv3417672
Chromosome Location	chr21:14343968-14346460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 390 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78193473	chr21:14343968-14343969	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188342226	chr21:14343969-14343970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191964373	chr21:14343976-14343977	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184208972	chr21:14343979-14343980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373643699	chr21:14343986-14343987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78696015	chr21:14343990-14343991	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577739346	chr21:14343995-14343996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75998793	chr21:14344002-14344003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79173939	chr21:14344005-14344006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188537886	chr21:14344006-14344007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77756667	chr21:14344007-14344008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78515821	chr21:14344013-14344014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368134305	chr21:14344017-14344018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545578190	chr21:14344019-14344020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370369734	chr21:14344023-14344024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370566560	chr21:14344027-14344028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79761612	chr21:14344032-14344033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374596164	chr21:14344035-14344036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201663017	chr21:14344036-14344037	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75932481	chr21:14344039-14344040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75754732	chr21:14344040-14344041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541760519	chr21:14344045-14344046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561685733	chr21:14344048-14344049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139316236	chr21:14344050-14344051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77326679	chr21:14344065-14344066	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75062164	chr21:14344066-14344067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76116630	chr21:14344070-14344071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74387225	chr21:14344072-14344073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74992274	chr21:14344077-14344078	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76744746	chr21:14344078-14344079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200853570	chr21:14344099-14344100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10432910	chr21:14344100-14344101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77365885	chr21:14344105-14344106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75864813	chr21:14344111-14344112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530440324	chr21:14344115-14344116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544267566	chr21:14344116-14344117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564151925	chr21:14344118-14344119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533097911	chr21:14344121-14344122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547208036	chr21:14344124-14344125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62223172	chr21:14344126-14344127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567119284	chr21:14344156-14344157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529549183	chr21:14344160-14344161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62223173	chr21:14344174-14344175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62223174	chr21:14344201-14344202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549425153	chr21:14344205-14344206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78407239	chr21:14344213-14344214	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77821173	chr21:14344219-14344220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10432915	chr21:14344220-14344221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79597825	chr21:14344224-14344225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78020536	chr21:14344229-14344230	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:30 , 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	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
16	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
21	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
23	chr21:14344400-14345200	ZNF genes & repeats	HUVEC	blood vessel
24	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
25	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
27	chr21:14344600-14345000	ZNF genes & repeats	Psoas Muscle	Psoas
28	chr21:14344600-14345200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:14344800-14345000	ZNF genes & repeats	Aorta	Aorta
30	chr21:14345000-14345600	Active TSS	Aorta	Aorta

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