Variant report

Variant	esv3510127
Chromosome Location	chr21:17522118-17522621
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367707523	chr21:17522195-17522196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545546932	chr21:17522199-17522200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182814323	chr21:17522206-17522207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76690631	chr21:17522221-17522222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150421271	chr21:17522222-17522223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71317636	chr21:17522262-17522263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562970367	chr21:17522263-17522264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532073083	chr21:17522264-17522265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545920844	chr21:17522269-17522270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565292417	chr21:17522270-17522271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371188335	chr21:17522272-17522273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530065903	chr21:17522273-17522274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550144000	chr21:17522279-17522280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368042785	chr21:17522280-17522281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71317637	chr21:17522281-17522282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371573138	chr21:17522283-17522284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113970584	chr21:17522289-17522290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570112663	chr21:17522290-17522291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184801836	chr21:17522293-17522294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367601725	chr21:17522294-17522295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371563791	chr21:17522295-17522296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386816557	chr21:17522296-17522297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377279992	chr21:17522297-17522298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372717362	chr21:17522302-17522303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369898724	chr21:17522303-17522304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372572667	chr21:17522305-17522306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545532960	chr21:17522306-17522307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559420370	chr21:17522309-17522310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577211696	chr21:17522311-17522312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546090786	chr21:17522319-17522320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561495825	chr21:17522322-17522323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530415109	chr21:17522323-17522324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559602342	chr21:17522327-17522328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550535640	chr21:17522329-17522330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375431610	chr21:17522334-17522335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527837044	chr21:17522335-17522336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375674667	chr21:17522338-17522339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146203035	chr21:17522343-17522344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552365263	chr21:17522353-17522354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566182644	chr21:17522366-17522367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373783532	chr21:17522367-17522368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554337504	chr21:17522368-17522369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55969679	chr21:17522372-17522373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375925635	chr21:17522373-17522374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536903209	chr21:17522374-17522375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561269562	chr21:17522379-17522380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377493550	chr21:17522380-17522381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556837812	chr21:17522381-17522382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530199302	chr21:17522382-17522383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368862640	chr21:17522387-17522388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17518200-17526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:17522600-17526600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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