Variant report

Variant	esv3445126
Chromosome Location	chr21:47588124-47592022
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47587472..47590076-chr21:47646984..47649833,2	MCF-7	breast:
2	chr21:47540169..47542673-chr21:47591421..47593527,2	MCF-7	breast:
3	chr21:47591887..47593806-chr21:47599783..47602845,3	K562	blood:
4	chr21:47588823..47590462-chr21:47601081..47603080,2	MCF-7	breast:
5	chr21:47583504..47585135-chr21:47586773..47588426,2	K562	blood:
6	chr21:47578880..47581848-chr21:47584809..47588383,3	K562	blood:
7	chr21:47580435..47582947-chr21:47589052..47590591,2	K562	blood:
8	chr21:47591191..47593431-chr21:47599705..47602062,3	MCF-7	breast:
9	chr21:47572189..47573895-chr21:47587183..47588702,2	K562	blood:
10	chr21:47591492..47594026-chr21:47596355..47598597,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215424	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000160285	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9974756	chr21:47588133-47588134	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113405941	chr21:47588152-47588153	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs546658555	chr21:47588155-47588156	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs9977498	chr21:47588157-47588158	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538948740	chr21:47588184-47588185	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375940944	chr21:47588207-47588208	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183823833	chr21:47588208-47588209	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs569046224	chr21:47588214-47588215	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369043715	chr21:47588224-47588225	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs201024959	chr21:47588233-47588234	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536030302	chr21:47588244-47588245	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs146905528	chr21:47588255-47588256	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148386998	chr21:47588265-47588266	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs141566688	chr21:47588268-47588269	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs199954331	chr21:47588277-47588278	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375450066	chr21:47588320-47588321	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373299805	chr21:47588361-47588362	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73908565	chr21:47588365-47588366	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534786582	chr21:47588378-47588379	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373265968	chr21:47588379-47588380	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577937678	chr21:47588395-47588396	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545720107	chr21:47588418-47588419	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs74486947	chr21:47588427-47588428	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs884134	chr21:47588428-47588429	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs200705216	chr21:47588462-47588463	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77889636	chr21:47588465-47588466	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs561457465	chr21:47588469-47588470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528241329	chr21:47588481-47588482	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540248819	chr21:47588536-47588537	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369176014	chr21:47588540-47588541	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531977796	chr21:47588561-47588562	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550872680	chr21:47588577-47588578	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569011729	chr21:47588610-47588611	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs146820112	chr21:47588623-47588624	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs560270320	chr21:47588633-47588634	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs548022105	chr21:47588636-47588637	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566327442	chr21:47588637-47588638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11909543	chr21:47588646-47588647	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs139572736	chr21:47588689-47588690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577984682	chr21:47588690-47588691	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538630265	chr21:47588694-47588695	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs58861127	chr21:47588735-47588736	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs575885966	chr21:47588736-47588737	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs61140994	chr21:47588743-47588744	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs146604399	chr21:47588780-47588781	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564783696	chr21:47588789-47588790	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs28588245	chr21:47588791-47588792	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs540345533	chr21:47588802-47588803	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs533422076	chr21:47588803-47588804	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532134634	chr21:47588808-47588809	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47573400-47590200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:47573600-47589600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:47573600-47600200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr21:47573600-47602000	Weak transcription	Gastric	stomach
5	chr21:47573800-47590800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr21:47573800-47591400	Weak transcription	Left Ventricle	heart
7	chr21:47573800-47592000	Weak transcription	Right Ventricle	heart
8	chr21:47573800-47593400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:47573800-47593400	Weak transcription	Brain Anterior Caudate	brain
10	chr21:47573800-47602200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr21:47573800-47603800	Weak transcription	Right Atrium	heart
12	chr21:47574000-47590400	Weak transcription	Placenta	Placenta
13	chr21:47574200-47590800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:47581400-47602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:47581600-47588400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:47581600-47588800	Weak transcription	Spleen	Spleen
17	chr21:47581600-47590000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr21:47581600-47600000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr21:47581600-47600200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr21:47582000-47592800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:47582000-47602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:47582000-47602800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr21:47582000-47602800	Weak transcription	Ovary	ovary
24	chr21:47582200-47588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:47582200-47591600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:47582400-47600200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr21:47582400-47603800	Weak transcription	Thymus	Thymus
28	chr21:47582600-47592200	Weak transcription	Fetal Intestine Small	intestine
29	chr21:47583000-47602800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr21:47583600-47588600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:47583600-47594000	Weak transcription	Fetal Lung	lung
32	chr21:47583800-47590800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:47585800-47592200	Weak transcription	K562	blood
34	chr21:47587400-47588800	Strong transcription	Fetal Stomach	stomach
35	chr21:47587400-47589000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:47587400-47589400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr21:47587600-47588600	Strong transcription	Fetal Muscle Leg	muscle
38	chr21:47587800-47592200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:47588000-47588400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:47588000-47588400	Strong transcription	Lung	lung
41	chr21:47588000-47588600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:47588000-47588600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:47588000-47588800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:47588000-47588800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr21:47588000-47588800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr21:47588000-47589000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:47588000-47589000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:47588000-47589200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr21:47588200-47588600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:47588400-47588600	Genic enhancers	Lung	lung

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