Variant report

Variant	esv3345901
Chromosome Location	chr21:14344359-14350923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 907 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:907 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202133122	chr21:14344361-14344362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555396771	chr21:14344367-14344368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575523818	chr21:14344379-14344380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543851583	chr21:14344381-14344382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564113411	chr21:14344390-14344391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111939294	chr21:14344391-14344392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113813234	chr21:14344393-14344394	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184220706	chr21:14344418-14344419	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577812555	chr21:14344425-14344426	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540335850	chr21:14344426-14344427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560632097	chr21:14344428-14344429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529484158	chr21:14344437-14344438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549579074	chr21:14344438-14344439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563022269	chr21:14344446-14344447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532072489	chr21:14344455-14344456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551358585	chr21:14344462-14344463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113165621	chr21:14344465-14344466	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77843165	chr21:14344475-14344476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571311009	chr21:14344477-14344478	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111397264	chr21:14344480-14344481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138534455	chr21:14344486-14344487	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533987760	chr21:14344491-14344492	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547503109	chr21:14344503-14344504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113515993	chr21:14344505-14344506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566632244	chr21:14344511-14344512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78609205	chr21:14344512-14344513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10432917	chr21:14344516-14344517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535272349	chr21:14344517-14344518	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368255714	chr21:14344529-14344530	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555574758	chr21:14344531-14344532	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77889857	chr21:14344537-14344538	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76228687	chr21:14344539-14344540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372301348	chr21:14344547-14344548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111435005	chr21:14344564-14344565	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77573087	chr21:14344574-14344575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375508262	chr21:14344585-14344586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113206262	chr21:14344615-14344616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141781619	chr21:14344616-14344617	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150788775	chr21:14344618-14344619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575442156	chr21:14344627-14344628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113327509	chr21:14344637-14344638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112121258	chr21:14344643-14344644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182049475	chr21:14344647-14344648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112593840	chr21:14344668-14344669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200980422	chr21:14344669-14344670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557740697	chr21:14344677-14344678	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111246950	chr21:14344679-14344680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201703004	chr21:14344681-14344682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200316123	chr21:14344682-14344683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201613489	chr21:14344684-14344685	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:37 , 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	chr21:14340400-14345600	ZNF genes & repeats	Fetal Brain Male	brain
13	chr21:14340600-14345800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr21:14341200-14345000	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr21:14342800-14345200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr21:14343000-14345200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:14343000-14345400	ZNF genes & repeats	Left Ventricle	heart
18	chr21:14343400-14345400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:14344000-14345600	ZNF genes & repeats	Fetal Lung	lung
20	chr21:14344400-14345200	ZNF genes & repeats	HUVEC	blood vessel
21	chr21:14344400-14345600	ZNF genes & repeats	Colon Smooth Muscle	Colon
22	chr21:14344400-14345800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
23	chr21:14344400-14345800	ZNF genes & repeats	Fetal Heart	heart
24	chr21:14344600-14345000	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr21:14344600-14345200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:14344800-14345000	ZNF genes & repeats	Aorta	Aorta
27	chr21:14345000-14345600	Active TSS	Aorta	Aorta
28	chr21:14347400-14348200	ZNF genes & repeats	HUVEC	blood vessel
29	chr21:14347600-14348000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:14347600-14348200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr21:14347600-14348400	ZNF genes & repeats	HepG2	liver
32	chr21:14348000-14350000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:14349200-14352400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr21:14349600-14350400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
35	chr21:14349600-14350600	ZNF genes & repeats	Fetal Brain Male	brain
36	chr21:14349800-14350800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr21:14350000-14350400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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