Variant report

Variant	esv3411780
Chromosome Location	chr21:47834280-47834718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47833631..47836518-chr21:47877493..47879983,3	MCF-7	breast:
2	chr21:47828187..47830277-chr21:47834306..47836291,2	MCF-7	breast:
3	chr21:47740893..47743470-chr21:47833748..47835683,2	MCF-7	breast:
4	chr21:47834319..47837549-chr21:47839408..47843063,3	K562	blood:
5	chr21:47832440..47835140-chr21:47835369..47837767,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225043	chromatin interactions
ENSG00000160305	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530972377	chr21:47834282-47834283	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs548687871	chr21:47834309-47834310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567336060	chr21:47834321-47834322	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs73379352	chr21:47834326-47834327	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs552926427	chr21:47834337-47834338	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs34534421	chr21:47834350-47834351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs571501092	chr21:47834363-47834364	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs71318075	chr21:47834369-47834370	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538939243	chr21:47834371-47834372	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs3831820	chr21:47834381-47834382	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375092952	chr21:47834415-47834416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs150492917	chr21:47834439-47834440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562782791	chr21:47834442-47834443	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372846295	chr21:47834443-47834444	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190610189	chr21:47834454-47834455	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs138337056	chr21:47834457-47834458	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555613563	chr21:47834474-47834475	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs377536680	chr21:47834498-47834499	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs112483377	chr21:47834503-47834504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113404535	chr21:47834514-47834515	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
21	rs574068626	chr21:47834555-47834556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs4819251	chr21:47834567-47834568	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs4819252	chr21:47834568-47834569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374270119	chr21:47834574-47834575	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113357723	chr21:47834637-47834638	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs143568008	chr21:47834642-47834643	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs147165843	chr21:47834643-47834644	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374892352	chr21:47834649-47834650	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536713401	chr21:47834666-47834667	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs882402	chr21:47834673-47834674	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111897923	chr21:47834678-47834679	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs72412326	chr21:47834679-47834680	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs4050291	chr21:47834687-47834688	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577573109	chr21:47834702-47834703	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs567473391	chr21:47834707-47834708	Weak transcription Strong transcription	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47775600-47857600	Weak transcription	Stomach Mucosa	stomach
2	chr21:47789400-47842600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr21:47802200-47842600	Strong transcription	Dnd41	blood
4	chr21:47803200-47872400	Weak transcription	Fetal Kidney	kidney
5	chr21:47803600-47842600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:47804800-47843000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr21:47804800-47843000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:47804800-47843400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:47809800-47842600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr21:47814400-47861000	Weak transcription	Fetal Brain Male	brain
11	chr21:47818400-47850200	Weak transcription	Small Intestine	intestine
12	chr21:47818600-47842600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr21:47820400-47851200	Weak transcription	NH-A	brain
14	chr21:47822800-47836000	Weak transcription	A549	lung
15	chr21:47822800-47843000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr21:47823200-47835000	Weak transcription	Colon Smooth Muscle	Colon
17	chr21:47823200-47850200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr21:47823400-47840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr21:47823800-47835800	Weak transcription	HSMM	muscle
20	chr21:47824600-47835800	Weak transcription	HSMMtube	muscle
21	chr21:47827400-47866600	Strong transcription	Fetal Stomach	stomach
22	chr21:47827600-47842600	Strong transcription	Primary T cells from cord blood	blood
23	chr21:47827800-47842800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:47828000-47863200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:47828400-47835600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr21:47828600-47872400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:47828800-47843200	Strong transcription	Fetal Muscle Leg	muscle
28	chr21:47829200-47843000	Strong transcription	Left Ventricle	heart
29	chr21:47829200-47843200	Strong transcription	Thymus	Thymus
30	chr21:47829400-47843200	Strong transcription	Fetal Muscle Trunk	muscle
31	chr21:47829400-47862600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr21:47829400-47867800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr21:47829600-47837000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:47829600-47837200	Strong transcription	Lung	lung
35	chr21:47829600-47842000	Strong transcription	Fetal Thymus	thymus
36	chr21:47829600-47842800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:47829600-47843000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr21:47829600-47843200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr21:47829600-47862800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:47829600-47864000	Strong transcription	Fetal Intestine Small	intestine
41	chr21:47829800-47836800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr21:47829800-47838600	Strong transcription	Spleen	Spleen
43	chr21:47829800-47842800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr21:47829800-47842800	Strong transcription	Right Ventricle	heart
45	chr21:47829800-47843000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr21:47830000-47836000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr21:47830000-47836800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr21:47830000-47837200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:47830000-47837200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr21:47830000-47842800	Strong transcription	Pancreas	Pancrea

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