Variant report

Variant	nsv913663
Chromosome Location	chr21:28635971-28670180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1334 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2830824	chr21:28635971-28635972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs137880881	chr21:28635982-28635983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538115388	chr21:28636007-28636008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554591223	chr21:28636018-28636019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574483093	chr21:28636129-28636130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180907051	chr21:28636150-28636151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149492381	chr21:28636151-28636152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541382008	chr21:28636166-28636167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74891715	chr21:28636208-28636209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373627765	chr21:28636234-28636235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560029688	chr21:28636257-28636258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546003847	chr21:28636296-28636297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527561219	chr21:28636298-28636299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552029507	chr21:28636326-28636327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147156727	chr21:28636428-28636429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534351526	chr21:28636430-28636431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140525682	chr21:28636433-28636434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552427918	chr21:28636434-28636435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572772855	chr21:28636435-28636436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548575736	chr21:28636436-28636437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376960164	chr21:28636454-28636455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576322853	chr21:28636455-28636456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541752477	chr21:28636464-28636465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142785267	chr21:28636469-28636470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530020280	chr21:28636479-28636480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147403023	chr21:28636522-28636523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187067117	chr21:28636536-28636537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190697681	chr21:28636576-28636577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71317497	chr21:28636587-28636588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs235929	chr21:28636684-28636685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs148494687	chr21:28636689-28636690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538578387	chr21:28636715-28636716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74724243	chr21:28636734-28636735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201019183	chr21:28636768-28636769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367724463	chr21:28636772-28636773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16980219	chr21:28636773-28636774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs34564157	chr21:28636783-28636784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568521602	chr21:28636828-28636829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533788304	chr21:28636850-28636851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs16980221	chr21:28636860-28636861	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs577019426	chr21:28636876-28636877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539147058	chr21:28636893-28636894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142670257	chr21:28636922-28636923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151257415	chr21:28636925-28636926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551492975	chr21:28636929-28636930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs235930	chr21:28636987-28636988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs561662116	chr21:28637050-28637051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571980212	chr21:28637083-28637084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540234881	chr21:28637089-28637090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373526573	chr21:28637101-28637102	Weak transcription Enhancers	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	21293372	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28618400-28642000	Weak transcription	Ovary	ovary
2	chr21:28632800-28638200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28634200-28638000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:28634800-28640400	Weak transcription	HSMM	muscle
5	chr21:28635000-28636800	Weak transcription	Dnd41	blood
6	chr21:28636800-28639600	Enhancers	Dnd41	blood
7	chr21:28637600-28637800	Enhancers	Colon Smooth Muscle	Colon
8	chr21:28637800-28640600	Weak transcription	Colon Smooth Muscle	Colon
9	chr21:28638000-28638800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:28638000-28638800	Enhancers	Adipose Nuclei	Adipose
11	chr21:28638200-28638800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:28638800-28640200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:28638800-28640200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:28638800-28647800	Weak transcription	Adipose Nuclei	Adipose
15	chr21:28639800-28640200	Active TSS	Brain Hippocampus Middle	brain
16	chr21:28640200-28640400	Flanking Active TSS	Brain Hippocampus Middle	brain
17	chr21:28640200-28640600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28640200-28640600	Enhancers	Fetal Kidney	kidney
19	chr21:28640200-28641400	Enhancers	Brain Substantia Nigra	brain
20	chr21:28640200-28641800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:28640200-28642800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr21:28640200-28642800	Enhancers	NHDF-Ad	bronchial
23	chr21:28640200-28643000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:28640200-28643000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr21:28640200-28643000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:28640200-28643200	Enhancers	Osteobl	bone
27	chr21:28640400-28640600	Enhancers	HMEC	breast
28	chr21:28640400-28641200	Enhancers	Brain Hippocampus Middle	brain
29	chr21:28640400-28641600	Enhancers	Hela-S3	cervix
30	chr21:28640400-28642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:28640400-28642800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:28640400-28642800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:28640400-28642800	Enhancers	HSMM	muscle
34	chr21:28640400-28642800	Enhancers	NH-A	brain
35	chr21:28640600-28641600	Enhancers	Colon Smooth Muscle	Colon
36	chr21:28640600-28641600	Weak transcription	HMEC	breast
37	chr21:28640600-28641800	Weak transcription	Fetal Kidney	kidney
38	chr21:28640600-28642400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr21:28640600-28642400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:28640800-28641400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr21:28640800-28641600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:28640800-28641800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:28640800-28642400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr21:28640800-28643000	Enhancers	NHLF	lung
45	chr21:28641000-28641200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr21:28641000-28641400	Enhancers	HSMMtube	muscle
47	chr21:28641000-28642400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr21:28641200-28642200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr21:28641400-28646800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:28641600-28643000	Enhancers	HMEC	breast

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