Variant report

Variant	esv3414767
Chromosome Location	chr21:14342939-14343729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577493203	chr21:14342939-14342940	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111592575	chr21:14342948-14342949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112281298	chr21:14342949-14342950	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546202533	chr21:14342956-14342957	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559828123	chr21:14342965-14342966	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186677549	chr21:14342973-14342974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528596539	chr21:14342984-14342985	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190256020	chr21:14342985-14342986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs456972	chr21:14342989-14342990	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542348386	chr21:14342994-14342995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560882579	chr21:14343007-14343008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374779597	chr21:14343020-14343021	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529915963	chr21:14343030-14343031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199795837	chr21:14343040-14343041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111655979	chr21:14343046-14343047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549780536	chr21:14343051-14343052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563577815	chr21:14343052-14343053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532307845	chr21:14343056-14343057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201251327	chr21:14343068-14343069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551751560	chr21:14343076-14343077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565339494	chr21:14343083-14343084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182524151	chr21:14343087-14343088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62223171	chr21:14343095-14343096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201453077	chr21:14343100-14343101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11509383	chr21:14343108-14343109	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534374082	chr21:14343109-14343110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547895920	chr21:14343113-14343114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149966462	chr21:14343127-14343128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200672062	chr21:14343137-14343138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201228088	chr21:14343146-14343147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113907944	chr21:14343150-14343151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568530316	chr21:14343162-14343163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111697037	chr21:14343169-14343170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537626838	chr21:14343177-14343178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112347318	chr21:14343185-14343186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572785410	chr21:14343197-14343198	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112025344	chr21:14343229-14343230	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72487637	chr21:14343231-14343232	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398071625	chr21:14343233-14343234	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186846070	chr21:14343256-14343257	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111877323	chr21:14343263-14343264	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557304549	chr21:14343269-14343270	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11508683	chr21:14343273-14343274	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189756539	chr21:14343291-14343292	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112636786	chr21:14343308-14343309	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113286131	chr21:14343311-14343312	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577455834	chr21:14343319-14343320	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540184509	chr21:14343321-14343322	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553356901	chr21:14343333-14343334	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79909330	chr21:14343345-14343346	ZNF genes & repeats Active TSS 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:34 , 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	chr21:14339600-14343200	Weak transcription	NH-A	brain
11	chr21:14340200-14344800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:14340400-14344000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
15	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr21:14340800-14343800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr21:14341800-14344000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr21:14342800-14343600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
21	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
24	chr21:14343200-14343600	Active TSS	Right Atrium	heart
25	chr21:14343200-14343600	ZNF genes & repeats	HSMMtube	muscle
26	chr21:14343200-14343600	ZNF genes & repeats	NH-A	brain
27	chr21:14343200-14343800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
28	chr21:14343200-14343800	ZNF genes & repeats	Aorta	Aorta
29	chr21:14343200-14343800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
30	chr21:14343200-14343800	ZNF genes & repeats	GM12878-XiMat	blood
31	chr21:14343400-14343600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
32	chr21:14343400-14343800	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr21:14343400-14343800	ZNF genes & repeats	Psoas Muscle	Psoas
34	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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