Variant report

Variant	esv3361506
Chromosome Location	chr21:47051224-47055822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47039670..47042446-chr21:47049286..47051805,2	K562	blood:
2	chr21:47011371..47013140-chr21:47050278..47051784,2	K562	blood:
3	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
4	chr21:47040946..47042648-chr21:47049591..47051805,2	K562	blood:
5	chr21:47044412..47047095-chr21:47051523..47054787,3	MCF-7	breast:
6	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:
7	chr21:46975605..46977111-chr21:47049591..47051833,2	K562	blood:

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 268 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:268 , 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	rs5844244	chr21:47051267-47051268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536491558	chr21:47051302-47051303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114512370	chr21:47051312-47051313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527548652	chr21:47051318-47051319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546983529	chr21:47051336-47051337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552980710	chr21:47051338-47051339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111245156	chr21:47051365-47051366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371925289	chr21:47051386-47051387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568049932	chr21:47051390-47051391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536853763	chr21:47051440-47051441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141720488	chr21:47051565-47051566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566763851	chr21:47051600-47051601	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185690238	chr21:47051604-47051605	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147114865	chr21:47051611-47051612	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545730416	chr21:47051635-47051636	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs190985249	chr21:47051707-47051708	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183120323	chr21:47051716-47051717	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs736063	chr21:47051721-47051722	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs555858685	chr21:47051765-47051766	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs744507	chr21:47051787-47051788	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541628866	chr21:47051810-47051811	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77205175	chr21:47051818-47051819	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs744506	chr21:47051836-47051837	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs545776113	chr21:47051841-47051842	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs75942668	chr21:47051846-47051847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs561124935	chr21:47051847-47051848	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs532534834	chr21:47051853-47051854	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187706062	chr21:47051893-47051894	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138515462	chr21:47051928-47051929	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371860191	chr21:47051945-47051946	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs375498331	chr21:47051946-47051947	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115782073	chr21:47051991-47051992	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548807388	chr21:47051994-47051995	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs573906057	chr21:47052022-47052023	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566941172	chr21:47052137-47052138	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs554690950	chr21:47052152-47052153	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs543018170	chr21:47052166-47052167	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571094027	chr21:47052168-47052169	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375218579	chr21:47052182-47052183	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs141093063	chr21:47052201-47052202	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574205780	chr21:47052203-47052204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs2330186	chr21:47052223-47052224	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553981655	chr21:47052225-47052226	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572125895	chr21:47052232-47052233	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546114211	chr21:47052261-47052262	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs79321199	chr21:47052270-47052271	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs117186830	chr21:47052271-47052272	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544620027	chr21:47052295-47052296	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs2877078	chr21:47052296-47052297	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs530255893	chr21:47052297-47052298	Weak transcription Enhancers Bivalent Enhancer 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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47048600-47052000	Enhancers	Fetal Thymus	thymus
2	chr21:47049400-47052000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr21:47049600-47051600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr21:47049800-47051400	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47050000-47052600	Weak transcription	Spleen	Spleen
6	chr21:47050400-47052800	Weak transcription	Esophagus	oesophagus
7	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47050600-47051600	Enhancers	Thymus	Thymus
9	chr21:47051200-47052800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr21:47051200-47053200	Enhancers	Primary B cells from peripheral blood	blood
11	chr21:47051400-47052800	Enhancers	Primary T cells from cord blood	blood
12	chr21:47051600-47052000	Enhancers	Primary B cells from cord blood	blood
13	chr21:47051600-47052000	Enhancers	GM12878-XiMat	blood
14	chr21:47051600-47052600	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr21:47051600-47052800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr21:47051600-47053200	Flanking Active TSS	Thymus	Thymus
17	chr21:47051800-47052600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr21:47051800-47052600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr21:47052000-47052400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:47052000-47052800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr21:47052000-47052800	Flanking Active TSS	GM12878-XiMat	blood
22	chr21:47052000-47053000	Flanking Active TSS	Fetal Thymus	thymus
23	chr21:47052200-47053000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr21:47052400-47052800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr21:47052400-47053000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:47052400-47053000	Enhancers	Dnd41	blood
27	chr21:47052600-47053200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:47052600-47053200	Enhancers	Spleen	Spleen
29	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:47052800-47053000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr21:47052800-47053200	Enhancers	Esophagus	oesophagus
32	chr21:47052800-47053200	Enhancers	GM12878-XiMat	blood
33	chr21:47052800-47053200	Enhancers	HMEC	breast
34	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
36	chr21:47053000-47054200	Enhancers	Fetal Thymus	thymus
37	chr21:47053000-47058000	Weak transcription	Dnd41	blood
38	chr21:47053200-47054200	Weak transcription	Thymus	Thymus
39	chr21:47053200-47054400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr21:47053200-47054600	Weak transcription	GM12878-XiMat	blood
41	chr21:47053200-47055400	Weak transcription	Esophagus	oesophagus
42	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
43	chr21:47054200-47054600	Active TSS	Thymus	Thymus
44	chr21:47054200-47055000	Flanking Active TSS	Fetal Thymus	thymus
45	chr21:47054400-47054600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr21:47054400-47054600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr21:47054400-47054800	Active TSS	NHDF-Ad	bronchial

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