Variant report

Variant	nsv523396
Chromosome Location	chr21:16447754-16453356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16446620..16449128-chr21:16451528..16455169,3	K562	blood:
2	chr21:16435121..16437420-chr21:16448543..16451379,3	K562	blood:
3	chr21:16435795..16438879-chr21:16448165..16450807,4	K562	blood:
4	chr21:16446620..16449128-chr21:16451528..16455169,3	K562	blood:
5	chr21:16451964..16454163-chr21:16456494..16458846,2	MCF-7	breast:
6	chr21:16438761..16440286-chr21:16449257..16451061,2	MCF-7	breast:
7	chr21:16452819..16455240-chr21:16621879..16624162,2	K562	blood:
8	chr12:6492494..6494047-chr21:16450841..16452572,2	MCF-7	breast:
9	chr21:16436727..16440114-chr21:16451534..16456923,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236471	chromatin interactions
ENSG00000180530	chromatin interactions
ENSG00000111321	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:212 , 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	rs2823036	chr21:16447754-16447755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533394300	chr21:16447791-16447792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370568901	chr21:16447810-16447811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2252756	chr21:16447865-16447866	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs144833048	chr21:16447889-16447890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535758343	chr21:16447901-16447902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555633431	chr21:16447914-16447915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568559683	chr21:16447989-16447990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs367829490	chr21:16448026-16448027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537426493	chr21:16448027-16448028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557604479	chr21:16448054-16448055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566403099	chr21:16448107-16448108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577330687	chr21:16448162-16448163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28688039	chr21:16448215-16448216	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2254729	chr21:16448219-16448220	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573839381	chr21:16448282-16448283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs13050300	chr21:16448316-16448317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185798578	chr21:16448334-16448335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375557535	chr21:16448383-16448384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368671313	chr21:16448385-16448386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562766120	chr21:16448398-16448399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560097392	chr21:16448419-16448420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189402469	chr21:16448464-16448465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs114253407	chr21:16448497-16448498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2254956	chr21:16448500-16448501	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs138600275	chr21:16448550-16448551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149288613	chr21:16448552-16448553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529445797	chr21:16448564-16448565	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144750779	chr21:16448573-16448574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs73338844	chr21:16448591-16448592	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76453860	chr21:16448687-16448688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs180951641	chr21:16448692-16448693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs571108512	chr21:16448703-16448704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535538182	chr21:16448740-16448741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143881687	chr21:16448821-16448822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2255190	chr21:16448896-16448897	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs372963184	chr21:16448897-16448898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs530549216	chr21:16448956-16448957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183612558	chr21:16448959-16448960	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536426970	chr21:16448961-16448962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550674427	chr21:16448975-16448976	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556528676	chr21:16448989-16448990	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs188719274	chr21:16449009-16449010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375828209	chr21:16449030-16449031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs544944292	chr21:16449068-16449069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs564516102	chr21:16449075-16449076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs577952113	chr21:16449186-16449187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554861411	chr21:16449220-16449221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs540771594	chr21:16449238-16449239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140668850	chr21:16449246-16449247	Weak transcription	Chromatin interactive region	1 gene(s)	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	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16440800-16450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:16450000-16450600	Enhancers	Primary hematopoietic stem cells	blood
3	chr21:16450000-16450800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:16450000-16450800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:16450000-16450800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr21:16451600-16452000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:16451600-16452000	Enhancers	Pancreas	Pancrea
8	chr21:16452000-16458600	Weak transcription	Pancreas	Pancrea
9	chr21:16452200-16453200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:16452400-16452600	Enhancers	Fetal Kidney	kidney
11	chr21:16452400-16454000	Enhancers	Hela-S3	cervix
12	chr21:16452800-16453200	Enhancers	K562	blood
13	chr21:16452800-16453400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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