Variant report

Variant	esv3333227
Chromosome Location	chr21:14341936-14343066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542670790	chr21:14341941-14341942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112183293	chr21:14341953-14341954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200019602	chr21:14341963-14341964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77175111	chr21:14341964-14341965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200788204	chr21:14341975-14341976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78513609	chr21:14341986-14341987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76487359	chr21:14341992-14341993	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140751426	chr21:14341993-14341994	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545258068	chr21:14342002-14342003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80346951	chr21:14342006-14342007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527978978	chr21:14342010-14342011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547687908	chr21:14342013-14342014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112957692	chr21:14342022-14342023	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148538309	chr21:14342023-14342024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74994253	chr21:14342024-14342025	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111248971	chr21:14342031-14342032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560906807	chr21:14342032-14342033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79879594	chr21:14342033-14342034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530052562	chr21:14342044-14342045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76149027	chr21:14342045-14342046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74376628	chr21:14342060-14342061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188342957	chr21:14342062-14342063	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200005330	chr21:14342067-14342068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550221818	chr21:14342078-14342079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79047231	chr21:14342080-14342081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112995949	chr21:14342087-14342088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539163552	chr21:14342128-14342129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551283910	chr21:14342132-14342133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148150532	chr21:14342135-14342136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571469373	chr21:14342141-14342142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77115469	chr21:14342146-14342147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77613876	chr21:14342150-14342151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78366495	chr21:14342155-14342156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79272991	chr21:14342163-14342164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554121738	chr21:14342164-14342165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77848058	chr21:14342168-14342169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573649863	chr21:14342170-14342171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535848323	chr21:14342172-14342173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76293413	chr21:14342178-14342179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576049200	chr21:14342181-14342182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545137871	chr21:14342186-14342187	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140411278	chr21:14342202-14342203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565092887	chr21:14342214-14342215	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73337048	chr21:14342224-14342225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113175173	chr21:14342243-14342244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572315319	chr21:14342253-14342254	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111827226	chr21:14342256-14342257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143320757	chr21:14342261-14342262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150633462	chr21:14342265-14342266	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143333082	chr21:14342272-14342273	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:32 , 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	chr21:14339400-14359000	Weak transcription	K562	blood
12	chr21:14339600-14343200	Weak transcription	NH-A	brain
13	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
17	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr21:14340800-14342000	ZNF genes & repeats	Fetal Heart	heart
19	chr21:14340800-14343800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
21	chr21:14341400-14342800	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr21:14342200-14342400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr21:14342200-14342400	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr21:14342200-14342400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr21:14342200-14342600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr21:14342400-14342600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
28	chr21:14342800-14343600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
30	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart

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