Variant report

Variant	esv3455429
Chromosome Location	chr21:47587224-47592722
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47540169..47542673-chr21:47591421..47593527,2	MCF-7	breast:
2	chr21:47580435..47582947-chr21:47589052..47590591,2	K562	blood:
3	chr21:47591887..47593806-chr21:47599783..47602845,3	K562	blood:
4	chr21:47587472..47590076-chr21:47646984..47649833,2	MCF-7	breast:
5	chr21:47578880..47581848-chr21:47584809..47588383,3	K562	blood:
6	chr21:47572189..47573895-chr21:47587183..47588702,2	K562	blood:
7	chr21:47588823..47590462-chr21:47601081..47603080,2	MCF-7	breast:
8	chr21:47591492..47594026-chr21:47596355..47598597,2	K562	blood:
9	chr21:47583504..47585135-chr21:47586773..47588426,2	K562	blood:
10	chr21:47591191..47593431-chr21:47599705..47602062,3	MCF-7	breast:
11	chr21:47579510..47581260-chr21:47592233..47594320,2	K562	blood:

No data

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

Extended variants
information (count: 392 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561772005	chr21:47587225-47587226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143796261	chr21:47587274-47587275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372106729	chr21:47587275-47587276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372919225	chr21:47587276-47587277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59210617	chr21:47587301-47587302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111340612	chr21:47587357-47587358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559591957	chr21:47587359-47587360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533367745	chr21:47587360-47587361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185413298	chr21:47587395-47587396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112219594	chr21:47587397-47587398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568325766	chr21:47587417-47587418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149533441	chr21:47587457-47587458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530677953	chr21:47587458-47587459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575988996	chr21:47587464-47587465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188355484	chr21:47587494-47587495	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553972628	chr21:47587495-47587496	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs144250255	chr21:47587515-47587516	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs116632614	chr21:47587518-47587519	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs553306167	chr21:47587519-47587520	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs180710696	chr21:47587565-47587566	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs544709211	chr21:47587584-47587585	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs538546670	chr21:47587616-47587617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs9984799	chr21:47587628-47587629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs148723860	chr21:47587646-47587647	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs75666188	chr21:47587662-47587663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543928641	chr21:47587693-47587694	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs555405396	chr21:47587848-47587849	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs185721519	chr21:47587857-47587858	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs540981559	chr21:47587939-47587940	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs8134875	chr21:47587940-47587941	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190241161	chr21:47587945-47587946	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs545375250	chr21:47587974-47587975	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs9977392	chr21:47587986-47587987	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs530997781	chr21:47587993-47587994	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs549115652	chr21:47588111-47588112	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	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
37	rs113405941	chr21:47588152-47588153	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546658555	chr21:47588155-47588156	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs9977498	chr21:47588157-47588158	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs538948740	chr21:47588184-47588185	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs375940944	chr21:47588207-47588208	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183823833	chr21:47588208-47588209	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569046224	chr21:47588214-47588215	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369043715	chr21:47588224-47588225	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201024959	chr21:47588233-47588234	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536030302	chr21:47588244-47588245	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146905528	chr21:47588255-47588256	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148386998	chr21:47588265-47588266	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs141566688	chr21:47588268-47588269	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs199954331	chr21:47588277-47588278	Weak transcription Strong transcription ZNF genes & repeats	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:117 , 50 per page) page: 1 2 3

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	chr21:47573800-47588000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:47573800-47590800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:47573800-47591400	Weak transcription	Left Ventricle	heart
8	chr21:47573800-47592000	Weak transcription	Right Ventricle	heart
9	chr21:47573800-47593400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:47573800-47593400	Weak transcription	Brain Anterior Caudate	brain
11	chr21:47573800-47602200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr21:47573800-47603800	Weak transcription	Right Atrium	heart
13	chr21:47574000-47590400	Weak transcription	Placenta	Placenta
14	chr21:47574200-47590800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr21:47580200-47588000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:47581400-47602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr21:47581600-47588000	Weak transcription	Lung	lung
18	chr21:47581600-47588400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr21:47581600-47588800	Weak transcription	Spleen	Spleen
20	chr21:47581600-47590000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr21:47581600-47600000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr21:47581600-47600200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr21:47581800-47588000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr21:47582000-47588000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:47582000-47588000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:47582000-47592800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:47582000-47602200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr21:47582000-47602800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:47582000-47602800	Weak transcription	Ovary	ovary
30	chr21:47582200-47588200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:47582200-47591600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr21:47582400-47588000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:47582400-47588000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr21:47582400-47600200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr21:47582400-47603800	Weak transcription	Thymus	Thymus
36	chr21:47582600-47592200	Weak transcription	Fetal Intestine Small	intestine
37	chr21:47582800-47587400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr21:47583000-47587600	Weak transcription	Fetal Muscle Leg	muscle
39	chr21:47583000-47588000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:47583000-47602800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:47583600-47588600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr21:47583600-47594000	Weak transcription	Fetal Lung	lung
43	chr21:47583800-47590800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:47584800-47587400	Weak transcription	Fetal Stomach	stomach
45	chr21:47585400-47587400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr21:47585600-47588000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:47585800-47592200	Weak transcription	K562	blood
48	chr21:47587400-47588800	Strong transcription	Fetal Stomach	stomach
49	chr21:47587400-47589000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr21:47587400-47589400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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