Variant report

Variant	nsv587488
Chromosome Location	chr21:41452034-41477207
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41455422..41457772-chr21:41470233..41472166,2	MCF-7	breast:
2	chr21:41446437..41448157-chr21:41457968..41459510,2	MCF-7	breast:
3	chr21:41159923..41160524-chr21:41461365..41462346,2	MCF-7	breast:
4	chr21:41455422..41457772-chr21:41470233..41472166,2	MCF-7	breast:
5	chr21:41454642..41458159-chr21:41458636..41462727,4	MCF-7	breast:
6	chr21:41446960..41449288-chr21:41450404..41452944,2	MCF-7	breast:
7	chr21:41459687..41461668-chr21:41462185..41464828,3	MCF-7	breast:
8	chr21:41424974..41427053-chr21:41456157..41458789,2	MCF-7	breast:
9	chr21:41459687..41461668-chr21:41462185..41464828,3	MCF-7	breast:
10	chr21:41454642..41458159-chr21:41458636..41462727,4	MCF-7	breast:

No data

Extended variants
information (count: 978 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:978 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2837424	chr21:41452034-41452035	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368307704	chr21:41452035-41452036	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538385532	chr21:41452051-41452052	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558270542	chr21:41452052-41452053	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200859600	chr21:41452059-41452060	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372130512	chr21:41452060-41452061	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201995032	chr21:41452064-41452065	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201816084	chr21:41452066-41452067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368213808	chr21:41452072-41452073	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200427833	chr21:41452119-41452120	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534405933	chr21:41452189-41452190	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371455313	chr21:41452203-41452204	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555123775	chr21:41452214-41452215	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374926382	chr21:41452223-41452224	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141827637	chr21:41452247-41452248	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199748082	chr21:41452263-41452264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7277487	chr21:41452298-41452299	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373375016	chr21:41452301-41452302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543301849	chr21:41452352-41452353	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187005008	chr21:41452357-41452358	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575617280	chr21:41452399-41452400	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111679513	chr21:41452400-41452401	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182765904	chr21:41452420-41452421	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564661884	chr21:41452426-41452427	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571774205	chr21:41452454-41452455	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187791586	chr21:41452503-41452504	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561091405	chr21:41452512-41452513	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529993170	chr21:41452555-41452556	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371925864	chr21:41452618-41452619	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550041914	chr21:41452620-41452621	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529638884	chr21:41452648-41452649	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562908156	chr21:41452702-41452703	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560221301	chr21:41452709-41452710	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs60149441	chr21:41452733-41452734	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200148280	chr21:41452740-41452741	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551763361	chr21:41452776-41452777	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150185663	chr21:41452778-41452779	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534250853	chr21:41452803-41452804	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138729667	chr21:41452835-41452836	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149312959	chr21:41452843-41452844	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7278526	chr21:41452890-41452891	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536576604	chr21:41452907-41452908	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs193137701	chr21:41452917-41452918	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147431744	chr21:41452985-41452986	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139661700	chr21:41452986-41452987	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558089343	chr21:41453007-41453008	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571812971	chr21:41453016-41453017	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs8130946	chr21:41453043-41453044	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs8130948	chr21:41453049-41453050	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143671894	chr21:41453067-41453068	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
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
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
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41438000-41453000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr21:41440000-41455400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:41443000-41460000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:41444000-41460400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr21:41445200-41453200	Weak transcription	Brain Germinal Matrix	brain
6	chr21:41445200-41454200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:41446000-41470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:41447800-41473600	Weak transcription	Brain Angular Gyrus	brain
9	chr21:41448200-41452800	Weak transcription	Fetal Heart	heart
10	chr21:41448800-41454800	Weak transcription	Brain Hippocampus Middle	brain
11	chr21:41449000-41457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr21:41449200-41455000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:41451600-41461400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr21:41452000-41454400	Strong transcription	Fetal Muscle Leg	muscle
15	chr21:41452000-41465800	Weak transcription	Fetal Brain Female	brain
16	chr21:41452400-41453000	Enhancers	Fetal Stomach	stomach
17	chr21:41452400-41453400	Enhancers	Fetal Brain Male	brain
18	chr21:41452800-41453400	Enhancers	Fetal Heart	heart
19	chr21:41453000-41453200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:41453000-41454600	Weak transcription	Fetal Stomach	stomach
21	chr21:41453200-41467000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:41454400-41462400	Weak transcription	Fetal Muscle Leg	muscle
23	chr21:41454600-41454800	Enhancers	Fetal Stomach	stomach
24	chr21:41455000-41468000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr21:41457600-41458000	Enhancers	Aorta	Aorta
26	chr21:41460000-41461600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr21:41461600-41465400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr21:41462400-41462600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:41465400-41470800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:41470400-41470600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:41470800-41477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:41473000-41473600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr21:41474200-41475000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr21:41474400-41474800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr21:41474400-41474800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr21:41474400-41475000	Enhancers	H1 Cell Line	embryonic stem cell
37	chr21:41474400-41475000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr21:41474400-41475000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr21:41474400-41475000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr21:41474600-41475000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr21:41477200-41482600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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