Variant report

Variant	esv2072832
Chromosome Location	chr21:47279000-47279437
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	chr21:47273743..47277318-chr21:47278622..47280436,3	K562	blood:

Variant related genes	Relation type
ENSG00000183570	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150453898	chr21:47279004-47279005	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138480780	chr21:47279020-47279021	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs143031510	chr21:47279112-47279113	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1014446	chr21:47279147-47279148	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs527868338	chr21:47279172-47279173	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376518924	chr21:47279178-47279179	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115221840	chr21:47279179-47279180	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs60932819	chr21:47279187-47279188	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570182022	chr21:47279190-47279191	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147652043	chr21:47279201-47279202	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs56013631	chr21:47279206-47279207	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62211888	chr21:47279207-47279208	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62211889	chr21:47279209-47279210	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62211890	chr21:47279213-47279214	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7278613	chr21:47279219-47279220	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs62211891	chr21:47279222-47279223	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555698952	chr21:47279223-47279224	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7279198	chr21:47279227-47279228	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535150527	chr21:47279242-47279243	Strong transcription Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2839019	chr21:47279244-47279245	Strong transcription Weak transcription Enhancers Bivalent Enhancer	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47265800-47282000	Weak transcription	Primary T cells from cord blood	blood
2	chr21:47266800-47300600	Weak transcription	Right Atrium	heart
3	chr21:47272400-47282000	Strong transcription	Thymus	Thymus
4	chr21:47273200-47289400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:47273800-47299200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr21:47275200-47284200	Weak transcription	HSMMtube	muscle
7	chr21:47275400-47279000	Weak transcription	Spleen	Spleen
8	chr21:47275400-47281200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:47275600-47279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47275800-47279000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr21:47275800-47281000	Weak transcription	Adipose Nuclei	Adipose
12	chr21:47275800-47284200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:47277200-47280600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr21:47277400-47281000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:47278400-47279600	Strong transcription	Fetal Thymus	thymus
16	chr21:47278400-47282800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:47278400-47283000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:47278800-47279800	Enhancers	Liver	Liver
19	chr21:47279000-47279200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr21:47279000-47279200	Bivalent Enhancer	HepG2	liver
21	chr21:47279000-47279600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:47279000-47280200	Strong transcription	Spleen	Spleen
23	chr21:47279000-47280800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr21:47279200-47279400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr21:47279200-47279600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:47279400-47280000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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