Variant report

Variant	nsv587863
Chromosome Location	chr21:47053245-47054310
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	chr21:47044412..47047095-chr21:47051523..47054787,3	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375300129	chr21:47053248-47053249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75912427	chr21:47053255-47053256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78051092	chr21:47053266-47053267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79112626	chr21:47053269-47053270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs78713807	chr21:47053286-47053287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79429599	chr21:47053307-47053308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71205884	chr21:47053334-47053335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564368204	chr21:47053337-47053338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373818343	chr21:47053359-47053360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71240731	chr21:47053375-47053376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13049632	chr21:47053382-47053383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74208552	chr21:47053385-47053386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75753326	chr21:47053392-47053393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71240732	chr21:47053403-47053404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71205885	chr21:47053423-47053424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370494251	chr21:47053432-47053433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13049251	chr21:47053444-47053445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368428808	chr21:47053454-47053455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113268944	chr21:47053460-47053461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13049340	chr21:47053471-47053472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35875403	chr21:47053473-47053474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373902783	chr21:47053482-47053483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113246323	chr21:47053491-47053492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531774304	chr21:47053521-47053522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372605795	chr21:47053529-47053530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543577061	chr21:47053535-47053536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13049371	chr21:47053540-47053541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375501889	chr21:47053560-47053561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13052976	chr21:47053581-47053582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111483012	chr21:47053628-47053629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71240737	chr21:47053656-47053657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376616230	chr21:47053666-47053667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs66499358	chr21:47053677-47053678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13048718	chr21:47053680-47053681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs9647240	chr21:47053705-47053706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373766645	chr21:47053734-47053735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376951086	chr21:47053745-47053746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369261007	chr21:47053765-47053766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372141115	chr21:47053796-47053797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13049699	chr21:47053803-47053804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs13046105	chr21:47053814-47053815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112347421	chr21:47053817-47053818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13048859	chr21:47053834-47053835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13048861	chr21:47053838-47053839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376679826	chr21:47053865-47053866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562066095	chr21:47053877-47053878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200275461	chr21:47053898-47053899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578225975	chr21:47053902-47053903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113075648	chr21:47053919-47053920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370006719	chr21:47053933-47053934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47053000-47054200	Enhancers	Fetal Thymus	thymus
6	chr21:47053000-47058000	Weak transcription	Dnd41	blood
7	chr21:47053200-47054200	Weak transcription	Thymus	Thymus
8	chr21:47053200-47054400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr21:47053200-47054600	Weak transcription	GM12878-XiMat	blood
10	chr21:47053200-47055400	Weak transcription	Esophagus	oesophagus
11	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
12	chr21:47054200-47054600	Active TSS	Thymus	Thymus
13	chr21:47054200-47055000	Flanking Active TSS	Fetal Thymus	thymus

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