Variant report

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138264294	chr21:47488718-47488719	ZNF genes & repeats Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs398121696	chr21:47488719-47488720	ZNF genes & repeats Enhancers Genic enhancers Weak 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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47484800-47488800	Enhancers	Ovary	ovary
2	chr21:47484800-47489400	Enhancers	Fetal Lung	lung
3	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
4	chr21:47485800-47488800	Enhancers	Fetal Heart	heart
5	chr21:47487600-47489000	Weak transcription	Fetal Kidney	kidney
6	chr21:47487600-47489400	Enhancers	Spleen	Spleen
7	chr21:47487800-47489800	Enhancers	Stomach Smooth Muscle	stomach
8	chr21:47488000-47489400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:47488000-47492000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:47488000-47492200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:47488000-47498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:47488200-47489600	Enhancers	Pancreas	Pancrea
13	chr21:47488200-47490600	Enhancers	Fetal Muscle Trunk	muscle
14	chr21:47488400-47488800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:47488400-47488800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:47488400-47489000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:47488400-47489400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:47488400-47489600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47488600-47489600	Weak transcription	Fetal Muscle Leg	muscle
20	chr21:47488600-47497600	Weak transcription	NHDF-Ad	bronchial

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