Variant report

Variant	esv2628354
Chromosome Location	chr21:47487303-47487308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47486054..47488058-chr21:47490628..47493448,2	MCF-7	breast:
2	chr21:47447601..47449403-chr21:47486419..47488081,2	K562	blood:
3	chr21:47483689..47485600-chr21:47485621..47488078,2	K562	blood:
4	chr21:47485799..47487872-chr21:47511862..47514238,2	K562	blood:

Variant related genes	Relation type
ENSG00000233767	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 36 )

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	rs71670989	chr21:47487303-47487304	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75252463	chr21:47487307-47487308	Enhancers Weak transcription Bivalent Enhancer 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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47483000-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:47483800-47488600	Enhancers	Fetal Muscle Leg	muscle
3	chr21:47484000-47488400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr21:47484000-47488400	Enhancers	Placenta	Placenta
5	chr21:47484200-47488200	Enhancers	Rectal Smooth Muscle	rectum
6	chr21:47484800-47487400	Enhancers	Colonic Mucosa	Colon
7	chr21:47484800-47487400	Bivalent Enhancer	Stomach Mucosa	stomach
8	chr21:47484800-47488000	Bivalent Enhancer	Fetal Intestine Large	intestine
9	chr21:47484800-47488200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:47484800-47488600	Enhancers	Fetal Stomach	stomach
11	chr21:47484800-47488800	Enhancers	Ovary	ovary
12	chr21:47484800-47489400	Enhancers	Fetal Lung	lung
13	chr21:47485000-47487400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr21:47485000-47487600	Enhancers	Pancreas	Pancrea
15	chr21:47485000-47487600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr21:47485000-47487800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr21:47485000-47488600	Enhancers	Right Ventricle	heart
18	chr21:47485200-47487600	Enhancers	HSMMtube	muscle
19	chr21:47485200-47488000	Bivalent Enhancer	Fetal Intestine Small	intestine
20	chr21:47485200-47488000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
22	chr21:47485400-47487400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:47485400-47488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:47485600-47487800	Enhancers	Left Ventricle	heart
25	chr21:47485800-47487400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr21:47485800-47488800	Enhancers	Fetal Heart	heart
27	chr21:47486000-47487600	Enhancers	NH-A	brain
28	chr21:47486000-47487800	Enhancers	Fetal Muscle Trunk	muscle
29	chr21:47486000-47488000	Enhancers	NHLF	lung
30	chr21:47486000-47488200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:47486000-47488200	Enhancers	Fetal Thymus	thymus
32	chr21:47486000-47488400	Enhancers	Esophagus	oesophagus
33	chr21:47486000-47488600	Enhancers	Adipose Nuclei	Adipose
34	chr21:47486200-47487600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr21:47486200-47487600	Enhancers	Fetal Kidney	kidney
36	chr21:47486200-47487800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:47486200-47488400	Enhancers	Duodenum Mucosa	Duodenum
38	chr21:47486400-47487600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr21:47486400-47487600	Enhancers	Primary hematopoietic stem cells	blood
40	chr21:47486400-47487600	Weak transcription	Lung	lung
41	chr21:47486400-47487600	Weak transcription	Spleen	Spleen
42	chr21:47486400-47487800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:47486400-47488000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr21:47486600-47488200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
45	chr21:47486800-47487400	Enhancers	Osteobl	bone
46	chr21:47486800-47487800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr21:47486800-47487800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:47486800-47487800	Enhancers	Brain Germinal Matrix	brain
49	chr21:47486800-47487800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr21:47486800-47488200	Enhancers	Colon Smooth Muscle	Colon

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