Variant report

Variant	nsv523501
Chromosome Location	chr21:41467826-41479698
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	chr21:41455422..41457772-chr21:41470233..41472166,2	MCF-7	breast:

Extended variants
information (count: 474 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:474 , 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	rs449998	chr21:41467826-41467827	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566262445	chr21:41467830-41467831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570681742	chr21:41467881-41467882	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140015916	chr21:41467882-41467883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558519391	chr21:41467928-41467929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200568085	chr21:41467961-41467962	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201317099	chr21:41467970-41467971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374515504	chr21:41467983-41467984	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530346046	chr21:41468046-41468047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149858023	chr21:41468102-41468103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554774940	chr21:41468103-41468104	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144768824	chr21:41468115-41468116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543967561	chr21:41468116-41468117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78564079	chr21:41468150-41468151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532797331	chr21:41468174-41468175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112906607	chr21:41468175-41468176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183236452	chr21:41468202-41468203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113510002	chr21:41468222-41468223	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528232701	chr21:41468228-41468229	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113780558	chr21:41468241-41468242	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28838617	chr21:41468247-41468248	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145402193	chr21:41468276-41468277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550710801	chr21:41468300-41468301	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570696863	chr21:41468305-41468306	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73221377	chr21:41468329-41468330	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187212409	chr21:41468357-41468358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534664775	chr21:41468373-41468374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558528630	chr21:41468376-41468377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79813446	chr21:41468450-41468451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79003081	chr21:41468515-41468516	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34231962	chr21:41468549-41468550	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191926858	chr21:41468554-41468555	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183839990	chr21:41468589-41468590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577511635	chr21:41468619-41468620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546495269	chr21:41468655-41468656	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560055007	chr21:41468675-41468676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528117776	chr21:41468769-41468770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188296175	chr21:41468771-41468772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561778568	chr21:41468785-41468786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530619420	chr21:41468856-41468857	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140706924	chr21:41468868-41468869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564285543	chr21:41468880-41468881	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs399684	chr21:41468884-41468885	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs529247201	chr21:41468892-41468893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78806605	chr21:41468929-41468930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566400507	chr21:41468985-41468986	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534699284	chr21:41469007-41469008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35441342	chr21:41469084-41469085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191897463	chr21:41469120-41469121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560061923	chr21:41469155-41469156	ZNF genes & repeats Weak transcription	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41446000-41470400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:41447800-41473600	Weak transcription	Brain Angular Gyrus	brain
3	chr21:41455000-41468000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr21:41465400-41470800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:41470400-41470600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:41470800-41477200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:41473000-41473600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:41474200-41475000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:41474400-41474800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr21:41474400-41474800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr21:41474400-41475000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr21:41474400-41475000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr21:41474400-41475000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:41474400-41475000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr21:41474600-41475000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr21:41477200-41482600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:41479200-41480800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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