Variant report

Variant	esv3402932
Chromosome Location	chr21:47431443-47431619
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	chr21:47422053..47425475-chr21:47428591..47432005,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142156	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554428570	chr21:47431474-47431475	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7278350	chr21:47431475-47431476	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183881750	chr21:47431476-47431477	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113411386	chr21:47431478-47431479	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577601650	chr21:47431482-47431483	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs111341664	chr21:47431491-47431492	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370219029	chr21:47431508-47431509	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs9754084	chr21:47431509-47431510	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142563676	chr21:47431510-47431511	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7277812	chr21:47431522-47431523	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs57007601	chr21:47431525-47431526	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs9754245	chr21:47431556-47431557	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543312169	chr21:47431558-47431559	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs567729107	chr21:47431559-47431560	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528740810	chr21:47431595-47431596	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185352727	chr21:47431612-47431613	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565006421	chr21:47431617-47431618	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532260564	chr21:47431619-47431620	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
2	chr21:47422800-47438800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:47424000-47432800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:47424600-47434400	Weak transcription	Aorta	Aorta
5	chr21:47425200-47431600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:47425200-47431600	Weak transcription	NHDF-Ad	bronchial
7	chr21:47425200-47432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:47425400-47432200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:47427600-47431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47428600-47432000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:47428800-47432000	Enhancers	Ovary	ovary
12	chr21:47430600-47431600	Weak transcription	Fetal Lung	lung
13	chr21:47431200-47431600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47431200-47431800	Enhancers	Lung	lung
15	chr21:47431400-47431600	Enhancers	Right Ventricle	heart
16	chr21:47431400-47432000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:47431600-47431800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:47431600-47431800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47431600-47431800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47431600-47432000	Enhancers	Fetal Lung	lung
21	chr21:47431600-47433000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:47431600-47433400	Enhancers	NHDF-Ad	bronchial

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