Variant report

Variant	esv3412278
Chromosome Location	chr21:47053724-47057822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
2	chr21:47015065..47016707-chr21:47057215..47058821,2	K562	blood:
3	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:
4	chr21:47044412..47047095-chr21:47051523..47054787,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 254 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373766645	chr21:47053734-47053735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376951086	chr21:47053745-47053746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369261007	chr21:47053765-47053766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372141115	chr21:47053796-47053797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13049699	chr21:47053803-47053804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13046105	chr21:47053814-47053815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112347421	chr21:47053817-47053818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13048859	chr21:47053834-47053835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13048861	chr21:47053838-47053839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376679826	chr21:47053865-47053866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562066095	chr21:47053877-47053878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200275461	chr21:47053898-47053899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578225975	chr21:47053902-47053903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113075648	chr21:47053919-47053920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370006719	chr21:47053933-47053934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13046227	chr21:47053935-47053936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529542707	chr21:47053946-47053947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547086429	chr21:47053953-47053954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55824315	chr21:47053962-47053963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376957131	chr21:47053971-47053972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375719944	chr21:47053992-47053993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370004812	chr21:47054002-47054003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565660612	chr21:47054044-47054045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532928557	chr21:47054067-47054068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551477118	chr21:47054070-47054071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569899120	chr21:47054072-47054073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373724526	chr21:47054077-47054078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368148544	chr21:47054088-47054089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369208732	chr21:47054091-47054092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372849988	chr21:47054139-47054140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201202867	chr21:47054172-47054173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370435782	chr21:47054176-47054177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56307505	chr21:47054186-47054187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571463334	chr21:47054207-47054208	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs60550634	chr21:47054214-47054215	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs67548804	chr21:47054228-47054229	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs13049372	chr21:47054249-47054250	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs538532642	chr21:47054267-47054268	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567460266	chr21:47054283-47054284	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs13046029	chr21:47054293-47054294	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534911688	chr21:47054335-47054336	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375888489	chr21:47054365-47054366	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs113891390	chr21:47054378-47054379	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs60988006	chr21:47054390-47054391	Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs371801709	chr21:47054433-47054434	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs184613760	chr21:47054460-47054461	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs140679831	chr21:47054467-47054468	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs576102147	chr21:47054473-47054474	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144680356	chr21:47054489-47054490	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs561903946	chr21:47054502-47054503	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	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:91 , 50 per page) page: 1 2

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
14	chr21:47054400-47054600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:47054400-47054600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr21:47054400-47054800	Active TSS	NHDF-Ad	bronchial
20	chr21:47054400-47055000	Active TSS	HSMMtube	muscle
21	chr21:47054400-47055200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
22	chr21:47054400-47055200	Enhancers	HSMM	muscle
23	chr21:47054400-47055200	Enhancers	Osteobl	bone
24	chr21:47054400-47055400	Enhancers	Primary B cells from peripheral blood	blood
25	chr21:47054400-47056200	Enhancers	Gastric	stomach
26	chr21:47054600-47054800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:47054600-47054800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:47054600-47054800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:47054600-47054800	Flanking Active TSS	Thymus	Thymus
30	chr21:47054600-47054800	Active TSS	GM12878-XiMat	blood
31	chr21:47054600-47055000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:47054800-47055000	Active TSS	Fetal Kidney	kidney
33	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:47054800-47055200	Flanking Active TSS	GM12878-XiMat	blood
36	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
37	chr21:47054800-47055400	Bivalent Enhancer	Fetal Brain Male	brain
38	chr21:47054800-47056000	Transcr. at gene 5' and 3'	Thymus	Thymus
39	chr21:47054800-47056600	Enhancers	Pancreas	Pancrea
40	chr21:47054800-47057200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:47055000-47055400	Enhancers	HSMMtube	muscle
42	chr21:47055000-47055600	Active TSS	Fetal Thymus	thymus
43	chr21:47055000-47056400	ZNF genes & repeats	K562	blood
44	chr21:47055000-47056600	ZNF genes & repeats	Fetal Heart	heart
45	chr21:47055000-47056600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
46	chr21:47055000-47056600	Bivalent/Poised TSS	Fetal Lung	lung
47	chr21:47055200-47055400	Active TSS	GM12878-XiMat	blood
48	chr21:47055200-47056000	Bivalent/Poised TSS	NHDF-Ad	bronchial
49	chr21:47055200-47056400	Weak transcription	HSMM	muscle
50	chr21:47055400-47055600	Bivalent/Poised TSS	Fetal Brain Male	brain

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