Variant report

Variant	nsv527017
Chromosome Location	chr21:15476890-15482605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 224 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8133096	chr21:15476890-15476891	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182061086	chr21:15476892-15476893	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141805826	chr21:15476932-15476933	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186472137	chr21:15476983-15476984	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572002157	chr21:15476984-15476985	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115364596	chr21:15477013-15477014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150461424	chr21:15477015-15477016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138254254	chr21:15477072-15477073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113028306	chr21:15477089-15477090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7277091	chr21:15477148-15477149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7277094	chr21:15477152-15477153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545040966	chr21:15477153-15477154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564922040	chr21:15477192-15477193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577546213	chr21:15477303-15477304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540129071	chr21:15477319-15477320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550663759	chr21:15477328-15477329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560304149	chr21:15477368-15477369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529031501	chr21:15477407-15477408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542803685	chr21:15477408-15477409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189676009	chr21:15477423-15477424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180964435	chr21:15477426-15477427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74520313	chr21:15477441-15477442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137936200	chr21:15477457-15477458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186368222	chr21:15477498-15477499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62208634	chr21:15477499-15477500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567852965	chr21:15477502-15477503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533228878	chr21:15477533-15477534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536495235	chr21:15477605-15477606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145927087	chr21:15477608-15477609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73155515	chr21:15477755-15477756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs368314814	chr21:15477761-15477762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538725419	chr21:15477791-15477792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191321862	chr21:15477797-15477798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8133393	chr21:15477808-15477809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs61071511	chr21:15477815-15477816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535615610	chr21:15477870-15477871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543152242	chr21:15477886-15477887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs8133532	chr21:15477888-15477889	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs542490890	chr21:15477897-15477898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113946142	chr21:15477899-15477900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562648562	chr21:15477947-15477948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369316887	chr21:15478037-15478038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545087935	chr21:15478056-15478057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372976377	chr21:15478075-15478076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564885336	chr21:15478077-15478078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527247321	chr21:15478107-15478108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183582739	chr21:15478108-15478109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567907675	chr21:15478134-15478135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186052666	chr21:15478206-15478207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375004412	chr21:15478251-15478252	Weak transcription Enhancers	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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15455800-15479800	Weak transcription	Colon Smooth Muscle	Colon
2	chr21:15457600-15487400	Weak transcription	Fetal Brain Male	brain
3	chr21:15457800-15486200	Weak transcription	Thymus	Thymus
4	chr21:15467600-15477000	Strong transcription	Dnd41	blood
5	chr21:15468000-15477000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:15470400-15487200	Weak transcription	Ovary	ovary
7	chr21:15470600-15480000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:15470800-15477000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr21:15470800-15477800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:15470800-15483600	Weak transcription	Fetal Lung	lung
11	chr21:15470800-15484800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:15470800-15486200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:15471000-15484200	Weak transcription	Fetal Brain Female	brain
14	chr21:15474000-15489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:15474600-15489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr21:15475000-15477800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr21:15475000-15486600	Weak transcription	Fetal Stomach	stomach
18	chr21:15475200-15477600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr21:15475400-15485200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr21:15475600-15477000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:15475800-15494600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr21:15476200-15477200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr21:15476600-15477200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:15476600-15478000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr21:15476800-15477200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr21:15476800-15477200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr21:15476800-15477400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr21:15476800-15477600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:15476800-15478800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:15477000-15477200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr21:15477000-15477200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr21:15477000-15477400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr21:15477000-15482800	Weak transcription	Dnd41	blood
34	chr21:15477200-15477400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr21:15477200-15478800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr21:15477600-15498000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr21:15477800-15478000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:15478000-15495200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr21:15478800-15479000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:15478800-15479600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr21:15479000-15479200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:15479200-15479400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:15479400-15480400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:15479600-15485200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr21:15480000-15480400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:15480400-15482800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:15480400-15497200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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