Variant report

Variant	nsv962666
Chromosome Location	chr21:15454490-15455092
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140623495	chr21:15454528-15454529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs117449605	chr21:15454546-15454547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs386816383	chr21:15454563-15454564	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs58106611	chr21:15454564-15454565	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2822397	chr21:15454603-15454604	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144975172	chr21:15454625-15454626	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs80031393	chr21:15454638-15454639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75064484	chr21:15454642-15454643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs79492281	chr21:15454649-15454650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77184427	chr21:15454651-15454652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs74614618	chr21:15454654-15454655	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534604691	chr21:15454659-15454660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs75814585	chr21:15454664-15454665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs76983096	chr21:15454684-15454685	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs149170093	chr21:15454685-15454686	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75081929	chr21:15454687-15454688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574364753	chr21:15454696-15454697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs79656925	chr21:15454716-15454717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs75940962	chr21:15454724-15454725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs537378243	chr21:15454737-15454738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs61389967	chr21:15454740-15454741	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577044053	chr21:15454746-15454747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113541520	chr21:15454747-15454748	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs545951847	chr21:15454748-15454749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs73149898	chr21:15454755-15454756	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs35653392	chr21:15454780-15454781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77084728	chr21:15454790-15454791	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs78769104	chr21:15454800-15454801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs398121442	chr21:15454804-15454805	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs74658488	chr21:15454821-15454822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78841360	chr21:15454825-15454826	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs572951284	chr21:15454829-15454830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542304145	chr21:15454830-15454831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs58987144	chr21:15454843-15454844	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530916062	chr21:15454853-15454854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs141571970	chr21:15454883-15454884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs62209954	chr21:15454920-15454921	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369480376	chr21:15454933-15454934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs75266840	chr21:15454939-15454940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs13049181	chr21:15454944-15454945	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs201329340	chr21:15454957-15454958	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76802967	chr21:15454964-15454965	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs80215172	chr21:15454966-15454967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75509344	chr21:15454968-15454969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs79797650	chr21:15454970-15454971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs74379380	chr21:15454972-15454973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78262387	chr21:15454976-15454977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79044545	chr21:15454979-15454980	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs77632179	chr21:15454985-15454986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78363968	chr21:15454987-15454988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	20435627	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
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
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
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15423400-15455600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:15441000-15470200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:15444200-15475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:15445200-15458800	Weak transcription	Right Atrium	heart
5	chr21:15445600-15455400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:15449400-15455400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:15452000-15458000	ZNF genes & repeats	Fetal Stomach	stomach
8	chr21:15452800-15454600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:15452800-15455400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:15452800-15455800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr21:15453800-15454600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:15453800-15455400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:15453800-15455400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr21:15454200-15454600	Weak transcription	Esophagus	oesophagus
15	chr21:15454200-15455400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:15454400-15454800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:15454400-15457600	ZNF genes & repeats	Dnd41	blood
18	chr21:15454600-15455800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:15454600-15456200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr21:15454800-15455600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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