Variant report

Variant	esv3405686
Chromosome Location	chr21:47050724-47057922
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46975605..46977111-chr21:47049591..47051833,2	K562	blood:
2	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
3	chr21:47044412..47047095-chr21:47051523..47054787,3	MCF-7	breast:
4	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:
5	chr21:47015065..47016707-chr21:47057215..47058821,2	K562	blood:
6	chr21:47040946..47042648-chr21:47049591..47051805,2	K562	blood:
7	chr21:47011371..47013140-chr21:47050278..47051784,2	K562	blood:
8	chr21:47039670..47042446-chr21:47049286..47051805,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532079887	chr21:47050866-47050867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530345111	chr21:47050867-47050868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550753530	chr21:47050902-47050903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58656002	chr21:47050913-47050914	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540567931	chr21:47050933-47050934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375767873	chr21:47050945-47050946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529975289	chr21:47050949-47050950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181580519	chr21:47050953-47050954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34515914	chr21:47050968-47050969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs535034844	chr21:47050969-47050970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113435554	chr21:47050982-47050983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546651095	chr21:47050997-47050998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571718078	chr21:47051001-47051002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs8129534	chr21:47051021-47051022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538718335	chr21:47051027-47051028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557628376	chr21:47051031-47051032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112118779	chr21:47051034-47051035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56322208	chr21:47051035-47051036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536973184	chr21:47051050-47051051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111883386	chr21:47051054-47051055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555285866	chr21:47051070-47051071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113894919	chr21:47051074-47051075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540244453	chr21:47051075-47051076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538320009	chr21:47051104-47051105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564677947	chr21:47051120-47051121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550729627	chr21:47051127-47051128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs8132981	chr21:47051143-47051144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs113193505	chr21:47051176-47051177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562388441	chr21:47051195-47051196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77880394	chr21:47051196-47051197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547950757	chr21:47051208-47051209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs5844244	chr21:47051267-47051268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536491558	chr21:47051302-47051303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114512370	chr21:47051312-47051313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527548652	chr21:47051318-47051319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546983529	chr21:47051336-47051337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552980710	chr21:47051338-47051339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111245156	chr21:47051365-47051366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371925289	chr21:47051386-47051387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568049932	chr21:47051390-47051391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536853763	chr21:47051440-47051441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141720488	chr21:47051565-47051566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566763851	chr21:47051600-47051601	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185690238	chr21:47051604-47051605	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs147114865	chr21:47051611-47051612	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs545730416	chr21:47051635-47051636	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190985249	chr21:47051707-47051708	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs183120323	chr21:47051716-47051717	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs736063	chr21:47051721-47051722	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs555858685	chr21:47051765-47051766	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:124 , 50 per page) page: 1 2 3

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	chr21:47049800-47051200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr21:47049800-47051400	Weak transcription	Primary T cells from cord blood	blood
6	chr21:47050000-47051200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr21:47050000-47052600	Weak transcription	Spleen	Spleen
8	chr21:47050400-47052800	Weak transcription	Esophagus	oesophagus
9	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47050600-47051600	Enhancers	Thymus	Thymus
11	chr21:47051200-47052800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr21:47051200-47053200	Enhancers	Primary B cells from peripheral blood	blood
13	chr21:47051400-47052800	Enhancers	Primary T cells from cord blood	blood
14	chr21:47051600-47052000	Enhancers	Primary B cells from cord blood	blood
15	chr21:47051600-47052000	Enhancers	GM12878-XiMat	blood
16	chr21:47051600-47052600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr21:47051600-47052800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr21:47051600-47053200	Flanking Active TSS	Thymus	Thymus
19	chr21:47051800-47052600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr21:47051800-47052600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr21:47052000-47052400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr21:47052000-47052800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr21:47052000-47052800	Flanking Active TSS	GM12878-XiMat	blood
24	chr21:47052000-47053000	Flanking Active TSS	Fetal Thymus	thymus
25	chr21:47052200-47053000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr21:47052400-47052800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr21:47052400-47053000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:47052400-47053000	Enhancers	Dnd41	blood
29	chr21:47052600-47053200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr21:47052600-47053200	Enhancers	Spleen	Spleen
31	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr21:47052800-47053000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
33	chr21:47052800-47053200	Enhancers	Esophagus	oesophagus
34	chr21:47052800-47053200	Enhancers	GM12878-XiMat	blood
35	chr21:47052800-47053200	Enhancers	HMEC	breast
36	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
38	chr21:47053000-47054200	Enhancers	Fetal Thymus	thymus
39	chr21:47053000-47058000	Weak transcription	Dnd41	blood
40	chr21:47053200-47054200	Weak transcription	Thymus	Thymus
41	chr21:47053200-47054400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr21:47053200-47054600	Weak transcription	GM12878-XiMat	blood
43	chr21:47053200-47055400	Weak transcription	Esophagus	oesophagus
44	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
45	chr21:47054200-47054600	Active TSS	Thymus	Thymus
46	chr21:47054200-47055000	Flanking Active TSS	Fetal Thymus	thymus
47	chr21:47054400-47054600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:47054400-47054600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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