Variant report

Variant	nsv817914
Chromosome Location	chr21:17000620-17010779
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	chr21:16999755..17002610-chr21:17103802..17105409,2	MCF-7	breast:
2	chr21:16989283..16990838-chr21:17003947..17006454,2	MCF-7	breast:

Extended variants
information (count: 463 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2823399	chr21:17000620-17000621	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184951204	chr21:17000629-17000630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143900468	chr21:17000655-17000656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146891988	chr21:17000667-17000668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188568144	chr21:17000736-17000737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377071695	chr21:17000773-17000774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577743905	chr21:17000775-17000776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539592059	chr21:17000784-17000785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59943399	chr21:17000802-17000803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150603849	chr21:17000803-17000804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200496971	chr21:17000806-17000807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201936010	chr21:17000808-17000809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8130836	chr21:17000810-17000811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541565207	chr21:17000812-17000813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369041446	chr21:17000829-17000830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576781093	chr21:17000830-17000831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111876194	chr21:17000834-17000835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181188286	chr21:17000856-17000857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545743482	chr21:17000865-17000866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8129950	chr21:17000866-17000867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538763547	chr21:17000888-17000889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11313340	chr21:17000915-17000916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543723045	chr21:17000960-17000961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28542389	chr21:17000990-17000991	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186237871	chr21:17000997-17000998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533119682	chr21:17001010-17001011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111937731	chr21:17001014-17001015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561245172	chr21:17001021-17001022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374927149	chr21:17001026-17001027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189042870	chr21:17001042-17001043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2823400	chr21:17001054-17001055	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528227564	chr21:17001075-17001076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76816132	chr21:17001131-17001132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73177284	chr21:17001162-17001163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs370388332	chr21:17001272-17001273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28510398	chr21:17001298-17001299	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568870390	chr21:17001299-17001300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149472006	chr21:17001300-17001301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530262258	chr21:17001337-17001338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372455314	chr21:17001354-17001355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549544147	chr21:17001368-17001369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550894914	chr21:17001387-17001388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186984940	chr21:17001418-17001419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371426589	chr21:17001449-17001450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2823401	chr21:17001450-17001451	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191059316	chr21:17001482-17001483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144219741	chr21:17001488-17001489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182409219	chr21:17001533-17001534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs370084949	chr21:17001573-17001574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59881909	chr21:17001612-17001613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16997600-17011000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr21:16998000-17011200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:16998200-17001800	Weak transcription	Placenta	Placenta
4	chr21:16999400-17001600	Enhancers	Fetal Heart	heart
5	chr21:17000200-17001800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr21:17000400-17000800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr21:17000800-17001800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr21:17000800-17003200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr21:17001200-17002000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr21:17001800-17002200	Enhancers	Placenta	Placenta
11	chr21:17003200-17003400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr21:17003400-17003800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr21:17003800-17004200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:17003800-17004400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:17003800-17004400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:17003800-17004400	Enhancers	Osteobl	bone
17	chr21:17003800-17004600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:17003800-17004600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr21:17004000-17004400	Enhancers	NHDF-Ad	bronchial
20	chr21:17004000-17004400	Enhancers	NHLF	lung
21	chr21:17004000-17005000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr21:17004000-17005400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:17005000-17005400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr21:17005400-17005600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr21:17005600-17011400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr21:17005800-17006200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:17006200-17011400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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