Variant report

Variant	nsv3463
Chromosome Location	chr21:17327119-17343458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17326901..17328732-chr21:17328956..17331734,2	K562	blood:
2	chr21:17326901..17328732-chr21:17328956..17331734,2	K562	blood:

Extended variants
information (count: 602 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530777867	chr21:17327119-17327120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs79858927	chr21:17327135-17327136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533841800	chr21:17327182-17327183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116997783	chr21:17327197-17327198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532518710	chr21:17327278-17327279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542824315	chr21:17327302-17327303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552617591	chr21:17327337-17327338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193042213	chr21:17327372-17327373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185595845	chr21:17327386-17327387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528465907	chr21:17327391-17327392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548134354	chr21:17327408-17327409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55877808	chr21:17327414-17327415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568426146	chr21:17327431-17327432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575385943	chr21:17327435-17327436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112331327	chr21:17327457-17327458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190450429	chr21:17327490-17327491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539193475	chr21:17327521-17327522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553022511	chr21:17327537-17327538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544294433	chr21:17327549-17327550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541849931	chr21:17327550-17327551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146336178	chr21:17327555-17327556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191611984	chr21:17327614-17327615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183759477	chr21:17327616-17327617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138365082	chr21:17327641-17327642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564183551	chr21:17327662-17327663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188822118	chr21:17327683-17327684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181174418	chr21:17327725-17327726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141746962	chr21:17327726-17327727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562614430	chr21:17327742-17327743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150779094	chr21:17327743-17327744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531349373	chr21:17327782-17327783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551500005	chr21:17327796-17327797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568085974	chr21:17327824-17327825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531137615	chr21:17327837-17327838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186388301	chr21:17327845-17327846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75059868	chr21:17327891-17327892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76467131	chr21:17327904-17327905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368855013	chr21:17327940-17327941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368589737	chr21:17328012-17328013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34065882	chr21:17328039-17328040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200443531	chr21:17328044-17328045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71185510	chr21:17328050-17328051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566580870	chr21:17328066-17328067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535505679	chr21:17328073-17328074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555420767	chr21:17328108-17328109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575288095	chr21:17328144-17328145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544211569	chr21:17328182-17328183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558031045	chr21:17328205-17328206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190042716	chr21:17328206-17328207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540434235	chr21:17328219-17328220	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	22037309	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17327000-17327200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:17327000-17339800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:17330400-17330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:17331200-17331400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:17336000-17337600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:17336000-17338000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:17336400-17336600	Enhancers	Fetal Lung	lung
8	chr21:17336400-17337200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr21:17336400-17337400	Enhancers	HMEC	breast
10	chr21:17336600-17336800	Enhancers	Aorta	Aorta
11	chr21:17336600-17337400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:17336600-17337400	Enhancers	NHEK	skin
13	chr21:17336600-17337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:17336800-17337200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:17337400-17339800	Weak transcription	HMEC	breast
16	chr21:17337400-17340000	Weak transcription	NHEK	skin
17	chr21:17337600-17340400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:17338000-17340400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:17338200-17339000	Enhancers	Fetal Lung	lung
20	chr21:17338800-17339000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr21:17338800-17339000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:17339000-17339800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr21:17339200-17340200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:17339800-17340600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:17339800-17340600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:17339800-17340600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:17339800-17340600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr21:17339800-17340600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr21:17339800-17340800	Enhancers	HMEC	breast
30	chr21:17339800-17340800	Enhancers	HSMM	muscle
31	chr21:17339800-17340800	Enhancers	HSMMtube	muscle
32	chr21:17340000-17340400	Enhancers	NHEK	skin
33	chr21:17340000-17340600	Enhancers	NH-A	brain
34	chr21:17340000-17340800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr21:17340200-17340600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr21:17340200-17340600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:17340200-17340600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr21:17340400-17340600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr21:17340400-17340800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:17340600-17341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:17341400-17341600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:17341400-17341800	Enhancers	Colon Smooth Muscle	Colon
43	chr21:17341600-17344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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