Variant report

Variant	esv3350799
Chromosome Location	chr21:14343210-14345872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 427 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112025344	chr21:14343229-14343230	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs72487637	chr21:14343231-14343232	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs398071625	chr21:14343233-14343234	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186846070	chr21:14343256-14343257	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111877323	chr21:14343263-14343264	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557304549	chr21:14343269-14343270	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11508683	chr21:14343273-14343274	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189756539	chr21:14343291-14343292	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112636786	chr21:14343308-14343309	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113286131	chr21:14343311-14343312	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577455834	chr21:14343319-14343320	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540184509	chr21:14343321-14343322	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553356901	chr21:14343333-14343334	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79909330	chr21:14343345-14343346	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111912639	chr21:14343346-14343347	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74560618	chr21:14343354-14343355	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79121068	chr21:14343366-14343367	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202137978	chr21:14343368-14343369	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11909158	chr21:14343369-14343370	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573283852	chr21:14343372-14343373	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542309386	chr21:14343377-14343378	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562234977	chr21:14343383-14343384	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575680158	chr21:14343388-14343389	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76413602	chr21:14343406-14343407	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543590024	chr21:14343409-14343410	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74577713	chr21:14343422-14343423	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150026790	chr21:14343426-14343427	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75253767	chr21:14343434-14343435	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76546517	chr21:14343435-14343436	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75380371	chr21:14343440-14343441	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75022381	chr21:14343448-14343449	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563379025	chr21:14343454-14343455	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532225055	chr21:14343456-14343457	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552059987	chr21:14343460-14343461	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558885480	chr21:14343471-14343472	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75551555	chr21:14343475-14343476	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11508684	chr21:14343478-14343479	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528094108	chr21:14343481-14343482	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75280019	chr21:14343484-14343485	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4616564	chr21:14343485-14343486	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111652740	chr21:14343486-14343487	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78092861	chr21:14343492-14343493	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80200267	chr21:14343500-14343501	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547904537	chr21:14343501-14343502	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568131376	chr21:14343503-14343504	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs466838	chr21:14343514-14343515	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78080192	chr21:14343516-14343517	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536785931	chr21:14343524-14343525	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200690148	chr21:14343535-14343536	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551150540	chr21:14343540-14343541	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:42 , 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	chr21:14342800-14343600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr21:14342800-14344000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
23	chr21:14343200-14343600	Active TSS	Right Atrium	heart
24	chr21:14343200-14343600	ZNF genes & repeats	HSMMtube	muscle
25	chr21:14343200-14343600	ZNF genes & repeats	NH-A	brain
26	chr21:14343200-14343800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
27	chr21:14343200-14343800	ZNF genes & repeats	Aorta	Aorta
28	chr21:14343200-14343800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
29	chr21:14343200-14343800	ZNF genes & repeats	GM12878-XiMat	blood
30	chr21:14343400-14343600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
31	chr21:14343400-14343800	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr21:14343400-14343800	ZNF genes & repeats	Psoas Muscle	Psoas
33	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
35	chr21:14344400-14345200	ZNF genes & repeats	HUVEC	blood vessel
36	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
37	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
38	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
39	chr21:14344600-14345000	ZNF genes & repeats	Psoas Muscle	Psoas
40	chr21:14344600-14345200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
41	chr21:14344800-14345000	ZNF genes & repeats	Aorta	Aorta
42	chr21:14345000-14345600	Active TSS	Aorta	Aorta

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