Variant report

Variant	nsv187128
Chromosome Location	chr21:39957483-39959284
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr21:39958492-39958647	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ERG	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35621108	chr21:39957531-39957532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3949052	chr21:39957549-39957550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2065307	chr21:39957566-39957567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369133270	chr21:39957590-39957591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs193094882	chr21:39957591-39957592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555855493	chr21:39957592-39957593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9983915	chr21:39957612-39957613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185802984	chr21:39957622-39957623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188873869	chr21:39957631-39957632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544757889	chr21:39957634-39957635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565528251	chr21:39957673-39957674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572669398	chr21:39957687-39957688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181412549	chr21:39957699-39957700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561572879	chr21:39957713-39957714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373311008	chr21:39957741-39957742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530302753	chr21:39957757-39957758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376802930	chr21:39957832-39957833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28394568	chr21:39957848-39957849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184410450	chr21:39957909-39957910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555521786	chr21:39957952-39957953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188362190	chr21:39957967-39957968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571147760	chr21:39957976-39957977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112005532	chr21:39957981-39957982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547140838	chr21:39958001-39958002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567242641	chr21:39958025-39958026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531691851	chr21:39958041-39958042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536143270	chr21:39958079-39958080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71316649	chr21:39958087-39958088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139609784	chr21:39958101-39958102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56413525	chr21:39958120-39958121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58361869	chr21:39958130-39958131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57155396	chr21:39958134-39958135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575945691	chr21:39958158-39958159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13051734	chr21:39958159-39958160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13051853	chr21:39958194-39958195	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558695757	chr21:39958228-39958229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572126567	chr21:39958297-39958298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548600908	chr21:39958303-39958304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541668031	chr21:39958361-39958362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200421615	chr21:39958399-39958400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561433700	chr21:39958400-39958401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185907314	chr21:39958502-39958503	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs374738228	chr21:39958525-39958526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs377688985	chr21:39958532-39958533	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs543736199	chr21:39958545-39958546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs140471552	chr21:39958555-39958556	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs191206316	chr21:39958654-39958655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544555220	chr21:39958721-39958722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7281275	chr21:39958738-39958739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374716972	chr21:39958755-39958756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
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
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39947200-39961000	Weak transcription	Aorta	Aorta
2	chr21:39955800-39971200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:39956600-39966000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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