Variant report

Variant	esv2207359
Chromosome Location	chr21:47322010-47322431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47290546..47292380-chr21:47322273..47324632,2	MCF-7	breast:
2	chr21:47308842..47311490-chr21:47321844..47323697,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552323546	chr21:47322061-47322062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369323444	chr21:47322101-47322102	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150898267	chr21:47322146-47322147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549541145	chr21:47322156-47322157	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527389899	chr21:47322159-47322160	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568343260	chr21:47322164-47322165	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7283556	chr21:47322166-47322167	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs7284057	chr21:47322167-47322168	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs71318016	chr21:47322168-47322169	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139487064	chr21:47322206-47322207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58281537	chr21:47322214-47322215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534004188	chr21:47322216-47322217	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558644890	chr21:47322218-47322219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113954007	chr21:47322226-47322227	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs8133445	chr21:47322227-47322228	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2839040	chr21:47322336-47322337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs116459489	chr21:47322353-47322354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377713413	chr21:47322371-47322372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149242194	chr21:47322391-47322392	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144499923	chr21:47322397-47322398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6518260	chr21:47322411-47322412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556641566	chr21:47322422-47322423	Weak transcription Strong transcription	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47313200-47335600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47314400-47330200	Weak transcription	Brain Hippocampus Middle	brain
4	chr21:47314600-47324600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:47314600-47327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr21:47314600-47330200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr21:47315000-47330200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:47315200-47323400	Weak transcription	HSMMtube	muscle
9	chr21:47315200-47330200	Weak transcription	Adipose Nuclei	Adipose
10	chr21:47316200-47322600	Weak transcription	Fetal Thymus	thymus
11	chr21:47316200-47326600	Strong transcription	Thymus	Thymus
12	chr21:47317600-47322400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:47317800-47322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:47320200-47330200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:47320800-47326000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:47321000-47323200	Strong transcription	Spleen	Spleen
17	chr21:47321200-47326000	Weak transcription	Fetal Stomach	stomach
18	chr21:47321600-47325200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47321800-47325000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr21:47321800-47327600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr21:47321800-47333000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:47321800-47337800	Weak transcription	Primary T cells from cord blood	blood
23	chr21:47322000-47322200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:47322200-47322400	Enhancers	Right Ventricle	heart
25	chr21:47322200-47322600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:47322200-47335200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr21:47322400-47325600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:47322400-47326200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:47322400-47330200	Weak transcription	Right Ventricle	heart

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