Variant report

Variant	nsv587337
Chromosome Location	chr21:28070037-28092531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:27542139..27543734-chr21:28083536..28086447,2	MCF-7	breast:
2	chr21:27253821..27254751-chr21:28089157..28090031,3	MCF-7	breast:
3	chr21:27253758..27254760-chr21:28089313..28090047,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142192	chromatin interactions
ENSG00000273492	chromatin interactions

Extended variants
information (count: 680 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:680 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575836412	chr21:28070424-28070425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117223602	chr21:28070445-28070446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560549394	chr21:28070449-28070450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373455517	chr21:28070491-28070492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529683492	chr21:28070544-28070545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546249486	chr21:28070576-28070577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559837016	chr21:28070587-28070588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12483301	chr21:28070591-28070592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560461872	chr21:28070593-28070594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552070963	chr21:28070635-28070636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569062193	chr21:28070645-28070646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537744493	chr21:28070677-28070678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373574185	chr21:28070693-28070694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548503058	chr21:28070695-28070696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs773	chr21:28070696-28070697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs536649466	chr21:28070719-28070720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553477470	chr21:28070738-28070739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139785923	chr21:28070773-28070774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17063	chr21:28070777-28070778	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs539658743	chr21:28070813-28070814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116909739	chr21:28070815-28070816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556882812	chr21:28070848-28070849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570874195	chr21:28070862-28070863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570402684	chr21:28070883-28070884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558038504	chr21:28070904-28070905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373445452	chr21:28070933-28070934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575841407	chr21:28070942-28070943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116695511	chr21:28070943-28070944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117605681	chr21:28070956-28070957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144513914	chr21:28071024-28071025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539856248	chr21:28071040-28071041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111869912	chr21:28071042-28071043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545580213	chr21:28071082-28071083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35549857	chr21:28071083-28071084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397831250	chr21:28071093-28071094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs397867153	chr21:28071094-28071095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532087698	chr21:28071159-28071160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545930735	chr21:28071183-28071184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549909542	chr21:28071207-28071208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114935848	chr21:28071259-28071260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531539755	chr21:28071271-28071272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9974534	chr21:28071281-28071282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs377243401	chr21:28071288-28071289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114430140	chr21:28071289-28071290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2952413	chr21:28071306-28071307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3989363	chr21:28071326-28071327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs180985104	chr21:28071381-28071382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539071497	chr21:28071404-28071405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73355614	chr21:28071418-28071419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2830408	chr21:28071450-28071451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28070400-28070800	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr21:28070800-28072000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:28072000-28072600	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr21:28075200-28075400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr21:28078400-28079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:28078400-28081400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr21:28078600-28081600	Enhancers	Dnd41	blood
8	chr21:28079200-28079600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:28079600-28080000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:28079600-28080000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:28079600-28080800	Enhancers	Primary hematopoietic stem cells	blood
12	chr21:28080000-28083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:28080000-28083600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:28080400-28081200	Enhancers	Placenta	Placenta
15	chr21:28080800-28081200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr21:28081200-28081600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr21:28081200-28082200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:28081400-28081800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr21:28081600-28082600	Weak transcription	Dnd41	blood
20	chr21:28081800-28083000	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr21:28082000-28082800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr21:28082000-28082800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:28082000-28083000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr21:28082200-28082800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr21:28082200-28083000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr21:28082200-28083200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr21:28082200-28083400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr21:28082400-28083400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr21:28082600-28082800	Enhancers	Primary hematopoietic stem cells	blood
30	chr21:28082600-28083000	Enhancers	Dnd41	blood
31	chr21:28082800-28083400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr21:28082800-28088400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr21:28083000-28088200	Weak transcription	Dnd41	blood
34	chr21:28083000-28088400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr21:28083400-28083600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:28083400-28088400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr21:28083600-28088000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr21:28086200-28086800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr21:28086800-28087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:28087200-28087800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr21:28087200-28088600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr21:28087200-28088800	Enhancers	Placenta	Placenta
43	chr21:28087600-28088400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:28088000-28088600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr21:28088000-28088800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr21:28088000-28088800	Enhancers	Brain Cingulate Gyrus	brain
47	chr21:28088000-28090000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr21:28088200-28088400	Enhancers	HMEC	breast
49	chr21:28088200-28088400	Enhancers	NHEK	skin
50	chr21:28088200-28088600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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