Variant report

Variant	esv3455541
Chromosome Location	chr21:14345336-14346076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545181377	chr21:14345338-14345339	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71321611	chr21:14345341-14345342	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558768513	chr21:14345344-14345345	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78779638	chr21:14345352-14345353	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75784986	chr21:14345377-14345378	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75498178	chr21:14345389-14345390	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79309084	chr21:14345390-14345391	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78517477	chr21:14345397-14345398	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78744419	chr21:14345407-14345408	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79917924	chr21:14345415-14345416	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541716726	chr21:14345416-14345417	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561087598	chr21:14345431-14345432	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530124303	chr21:14345433-14345434	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76057512	chr21:14345437-14345438	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200200019	chr21:14345471-14345472	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543478065	chr21:14345494-14345495	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563785745	chr21:14345497-14345498	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532690935	chr21:14345499-14345500	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76191355	chr21:14345502-14345503	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551595533	chr21:14345503-14345504	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571469205	chr21:14345507-14345508	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527543357	chr21:14345509-14345510	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201098148	chr21:14345516-14345517	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547684195	chr21:14345524-14345525	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75251010	chr21:14345536-14345537	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567122140	chr21:14345538-14345539	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80102009	chr21:14345547-14345548	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75294844	chr21:14345556-14345557	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79222591	chr21:14345560-14345561	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536224204	chr21:14345561-14345562	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549547302	chr21:14345585-14345586	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35649185	chr21:14345586-14345587	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77304051	chr21:14345589-14345590	ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113491252	chr21:14345601-14345602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538394122	chr21:14345604-14345605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76274634	chr21:14345609-14345610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558681921	chr21:14345619-14345620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs80280086	chr21:14345629-14345630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572317264	chr21:14345640-14345641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77935931	chr21:14345655-14345656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76783816	chr21:14345659-14345660	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36127427	chr21:14345660-14345661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79629118	chr21:14345670-14345671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75709919	chr21:14345676-14345677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534975437	chr21:14345682-14345683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555219920	chr21:14345683-14345684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4461336	chr21:14345689-14345690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79978600	chr21:14345696-14345697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575063422	chr21:14345697-14345698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146209640	chr21:14345702-14345703	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:19 , 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	chr21:14340200-14345400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
12	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
14	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
16	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
19	chr21:14345000-14345600	Active TSS	Aorta	Aorta

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