Variant report

Variant	nsv442490
Chromosome Location	chr21:16624406-16628657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:16582273..16583140-chr21:16628406..16628952,2	MCF-7	breast:
2	chr21:16627812..16630181-chr21:16630534..16633319,2	MCF-7	breast:
3	chr21:16628320..16628906-chr21:16959312..16959827,2	MCF-7	breast:
4	chr21:16624958..16627730-chr21:16631643..16633367,2	MCF-7	breast:
5	chr21:16624090..16626111-chr21:16855588..16857234,2	MCF-7	breast:
6	chr21:16628032..16628906-chr21:16958977..16959827,3	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376007986	chr21:16624443-16624444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192220503	chr21:16624444-16624445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576264448	chr21:16624448-16624449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544757782	chr21:16624454-16624455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569214171	chr21:16624464-16624465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs8133575	chr21:16624531-16624532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188817977	chr21:16624534-16624535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371485426	chr21:16624621-16624622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181189308	chr21:16624657-16624658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560765905	chr21:16624719-16624720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184716150	chr21:16624747-16624748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189036870	chr21:16624792-16624793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374798563	chr21:16624801-16624802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150265274	chr21:16624809-16624810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551549242	chr21:16624836-16624837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535311442	chr21:16624852-16624853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555271582	chr21:16624910-16624911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370923936	chr21:16624960-16624961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533894234	chr21:16624995-16624996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547767493	chr21:16625024-16625025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113260907	chr21:16625056-16625057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138915735	chr21:16625084-16625085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111854217	chr21:16625088-16625089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540560467	chr21:16625135-16625136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145756049	chr21:16625157-16625158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138593652	chr21:16625163-16625164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182428628	chr21:16625217-16625218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186990388	chr21:16625259-16625260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367599433	chr21:16625266-16625267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141607715	chr21:16625284-16625285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560848745	chr21:16625330-16625331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529050803	chr21:16625336-16625337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191111607	chr21:16625367-16625368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543710272	chr21:16625474-16625475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563589620	chr21:16625503-16625504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180733026	chr21:16625515-16625516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117324321	chr21:16625516-16625517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368182197	chr21:16625558-16625559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146187429	chr21:16625637-16625638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7277236	chr21:16625638-16625639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547610416	chr21:16625709-16625710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375800655	chr21:16625749-16625750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148399518	chr21:16625830-16625831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141804053	chr21:16625859-16625860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9977808	chr21:16625890-16625891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538811812	chr21:16625944-16625945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150588613	chr21:16625964-16625965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185012137	chr21:16625966-16625967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534690606	chr21:16625971-16625972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139599815	chr21:16625973-16625974	Weak transcription	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	22522925	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:16616200-16626200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:16621000-16628200	Weak transcription	HepG2	liver
3	chr21:16622800-16625200	Enhancers	HSMM	muscle
4	chr21:16623400-16625200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:16623400-16625600	Enhancers	Primary hematopoietic stem cells	blood
6	chr21:16623800-16624800	Weak transcription	K562	blood
7	chr21:16623800-16630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:16624000-16624600	Enhancers	Rectal Smooth Muscle	rectum
9	chr21:16624000-16625600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:16624000-16625600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:16624200-16624600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:16624200-16624600	Enhancers	Colon Smooth Muscle	Colon
13	chr21:16624200-16624800	Enhancers	HSMMtube	muscle
14	chr21:16624200-16625600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:16624200-16625600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr21:16624400-16625400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr21:16624600-16624800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:16624800-16630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:16625000-16625200	Enhancers	K562	blood
20	chr21:16625200-16625400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:16625400-16627200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:16625600-16628000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr21:16625600-16632400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:16626200-16626600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:16626200-16626800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:16626600-16628200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:16627800-16628600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr21:16628000-16628400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr21:16628200-16628400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:16628200-16628600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:16628200-16628600	Enhancers	Fetal Muscle Trunk	muscle
32	chr21:16628200-16629000	Enhancers	HepG2	liver
33	chr21:16628600-16630000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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