Variant report

Variant	esv14817
Chromosome Location	chr21:47293464-47303825
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47292095..47293643-chr21:47302560..47304735,2	K562	blood:
2	chr21:47298754..47301234-chr21:47302328..47305027,3	K562	blood:
3	chr21:46974485..46975268-chr21:47299866..47300947,3	MCF-7	breast:
4	chr21:47285455..47288368-chr21:47291495..47294082,2	MCF-7	breast:
5	chr21:47295466..47298745-chr21:47300328..47303080,5	MCF-7	breast:
6	chr21:47300028..47300909-chr21:47342650..47343811,5	MCF-7	breast:
7	chr21:47299971..47300594-chr21:47342907..47343695,3	MCF-7	breast:
8	chr21:47282962..47285157-chr21:47294870..47296396,2	K562	blood:
9	chr21:47240141..47240932-chr21:47300508..47301042,2	MCF-7	breast:
10	chr21:47300298..47303074-chr21:47311902..47313864,2	K562	blood:
11	chr21:47280227..47282087-chr21:47299384..47301576,2	MCF-7	breast:
12	chr21:47292108..47294051-chr21:47294662..47296338,2	K562	blood:
13	chr21:47295466..47298745-chr21:47300328..47303080,5	MCF-7	breast:
14	chr21:47293178..47296152-chr21:47298575..47300607,2	K562	blood:
15	chr21:47290619..47293353-chr21:47296443..47298286,2	K562	blood:
16	chr21:47300119..47302715-chr21:47341992..47344397,3	MCF-7	breast:
17	chr21:47293178..47296152-chr21:47298575..47300607,2	K562	blood:
18	chr21:47292108..47294051-chr21:47294662..47296338,2	K562	blood:
19	chr21:47300090..47300627-chr21:47342032..47342538,2	MCF-7	breast:
20	chr21:47298754..47301234-chr21:47302328..47305027,3	K562	blood:
21	chr21:47267781..47268663-chr21:47299803..47300649,2	MCF-7	breast:
22	chr21:47286050..47288539-chr21:47292437..47294935,2	K562	blood:
23	chr21:47292095..47293643-chr21:47302560..47304735,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 432 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:432 , 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	rs909429	chr21:47293468-47293469	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373080098	chr21:47293475-47293476	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs190241789	chr21:47293478-47293479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs182499593	chr21:47293482-47293483	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187533710	chr21:47293483-47293484	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560742655	chr21:47293520-47293521	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs753092	chr21:47293521-47293522	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117063792	chr21:47293522-47293523	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs559605902	chr21:47293564-47293565	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs533329470	chr21:47293572-47293573	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs192807662	chr21:47293573-47293574	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs551484697	chr21:47293589-47293590	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs569949974	chr21:47293676-47293677	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs73234777	chr21:47293699-47293700	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs531220828	chr21:47293758-47293759	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs373075886	chr21:47293788-47293789	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs375267384	chr21:47293790-47293791	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs117818552	chr21:47293794-47293795	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs142921804	chr21:47293799-47293800	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs35501432	chr21:47293802-47293803	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs567485524	chr21:47293827-47293828	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs151128196	chr21:47293832-47293833	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs538582203	chr21:47293833-47293834	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs184904884	chr21:47293872-47293873	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs185720960	chr21:47293904-47293905	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs373303070	chr21:47293938-47293939	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs574938087	chr21:47293955-47293956	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs536140179	chr21:47293965-47293966	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs188636906	chr21:47293988-47293989	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs554472450	chr21:47293989-47293990	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs572665045	chr21:47293999-47294000	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs145033769	chr21:47294164-47294165	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs882669	chr21:47294221-47294222	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs116147896	chr21:47294234-47294235	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs545524296	chr21:47294248-47294249	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs116772655	chr21:47294255-47294256	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs533669159	chr21:47294259-47294260	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs76065124	chr21:47294326-47294327	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs114967830	chr21:47294394-47294395	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs538897707	chr21:47294398-47294399	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs373877314	chr21:47294419-47294420	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs564045228	chr21:47294420-47294421	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs74702316	chr21:47294434-47294435	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs141943149	chr21:47294451-47294452	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs546881851	chr21:47294457-47294458	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs571281106	chr21:47294462-47294463	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs538347879	chr21:47294463-47294464	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs550311094	chr21:47294464-47294465	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs568492245	chr21:47294486-47294487	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs535880906	chr21:47294488-47294489	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	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:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47266800-47300600	Weak transcription	Right Atrium	heart
2	chr21:47273800-47299200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47286000-47294000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr21:47286400-47294800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:47286600-47294800	Weak transcription	Fetal Thymus	thymus
6	chr21:47288000-47294800	Weak transcription	Thymus	Thymus
7	chr21:47289800-47294400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:47289800-47294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr21:47290600-47294400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:47290800-47293600	Weak transcription	HSMM	muscle
11	chr21:47290800-47294200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:47290800-47294400	Weak transcription	NH-A	brain
13	chr21:47290800-47294600	Weak transcription	HSMMtube	muscle
14	chr21:47290800-47294600	Weak transcription	NHDF-Ad	bronchial
15	chr21:47291000-47294800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:47291200-47293600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:47291200-47294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr21:47291600-47294400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:47292000-47294600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:47292000-47295800	Weak transcription	Spleen	Spleen
21	chr21:47292800-47294600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:47293000-47299000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:47293400-47294600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr21:47293600-47294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47293600-47294600	Enhancers	HSMM	muscle
26	chr21:47294000-47294600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr21:47294000-47294600	Enhancers	NHEK	skin
28	chr21:47294000-47295600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:47294200-47294400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:47294400-47294600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:47294400-47294600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:47294400-47294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:47294400-47294600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr21:47294400-47294600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:47294400-47294600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:47294400-47294600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:47294400-47294600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr21:47294400-47294600	Enhancers	NH-A	brain
39	chr21:47294400-47294600	Enhancers	Osteobl	bone
40	chr21:47294400-47294800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr21:47294400-47295800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:47294400-47297000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr21:47294400-47298400	Enhancers	Placenta	Placenta
44	chr21:47294600-47294800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:47294600-47294800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr21:47294600-47295000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr21:47294600-47295000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:47294600-47295000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:47294600-47295000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr21:47294600-47295000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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