Variant report

Variant	esv3434072
Chromosome Location	chr21:15994381-15998179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 199 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576423709	chr21:15994419-15994420	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545165884	chr21:15994456-15994457	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs559009576	chr21:15994503-15994504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182186419	chr21:15994512-15994513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144578282	chr21:15994535-15994536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs193038403	chr21:15994554-15994555	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545166545	chr21:15994570-15994571	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs186466263	chr21:15994579-15994580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs402024	chr21:15994593-15994594	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs199785278	chr21:15994599-15994600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs543743304	chr21:15994600-15994601	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144097116	chr21:15994606-15994607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532179560	chr21:15994634-15994635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs184857816	chr21:15994635-15994636	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs191310090	chr21:15994638-15994639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs565777969	chr21:15994647-15994648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370862191	chr21:15994656-15994657	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs146589843	chr21:15994659-15994660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568294511	chr21:15994670-15994671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140070423	chr21:15994673-15994674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs557268701	chr21:15994689-15994690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533456199	chr21:15994707-15994708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs569902167	chr21:15994708-15994709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs540738621	chr21:15994727-15994728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs539030327	chr21:15994730-15994731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs401697	chr21:15994737-15994738	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs183131735	chr21:15994761-15994762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367867243	chr21:15994774-15994775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554729765	chr21:15994777-15994778	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574735267	chr21:15994786-15994787	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs116492109	chr21:15994787-15994788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs151254258	chr21:15994791-15994792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188069753	chr21:15994792-15994793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs193066394	chr21:15994798-15994799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs185311679	chr21:15994800-15994801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs528178567	chr21:15994825-15994826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548344486	chr21:15994850-15994851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549374143	chr21:15994866-15994867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561861303	chr21:15994881-15994882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376750092	chr21:15994898-15994899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113471323	chr21:15994961-15994962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563177886	chr21:15994963-15994964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531961699	chr21:15994974-15994975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550559775	chr21:15994990-15994991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs55940266	chr21:15995000-15995001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190603685	chr21:15995003-15995004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142578956	chr21:15995010-15995011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146732246	chr21:15995025-15995026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534784529	chr21:15995029-15995030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554690883	chr21:15995030-15995031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
XY gonadal dysgenesis	20685758	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15992200-15994600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr21:15992800-15994800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr21:15993400-15994400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:15993600-15994400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr21:15994400-16001600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:15994400-16001800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:15994600-16001600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:15994800-16001400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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