Variant report

Variant	esv3426795
Chromosome Location	chr21:47054657-47055003
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47044412..47047095-chr21:47051523..47054787,3	MCF-7	breast:
2	chr21:47054503..47058217-chr21:47058461..47061717,3	K562	blood:
3	chr21:47054633..47058675-chr21:47062386..47065972,3	K562	blood:

Variant related genes	Relation type
ENSG00000183570	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	rs556689727	chr21:47054717-47054718	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534640282	chr21:47054747-47054748	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553216755	chr21:47054757-47054758	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187396671	chr21:47054783-47054784	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57057834	chr21:47054798-47054799	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs192086997	chr21:47054801-47054802	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141630267	chr21:47054879-47054880	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs543501617	chr21:47054883-47054884	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185013786	chr21:47054884-47054885	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190612526	chr21:47054889-47054890	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs541392972	chr21:47054910-47054911	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57282159	chr21:47054915-47054916	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs578165168	chr21:47054951-47054952	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140027042	chr21:47054958-47054959	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs545033180	chr21:47054969-47054970	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575403116	chr21:47054975-47054976	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs74681567	chr21:47054985-47054986	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs534102958	chr21:47055003-47055004	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' 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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47050400-47055800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:47052600-47059000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr21:47052800-47058000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr21:47052800-47058400	Weak transcription	Primary T cells from cord blood	blood
5	chr21:47053000-47058000	Weak transcription	Dnd41	blood
6	chr21:47053200-47055400	Weak transcription	Esophagus	oesophagus
7	chr21:47053200-47055800	Weak transcription	Spleen	Spleen
8	chr21:47054200-47055000	Flanking Active TSS	Fetal Thymus	thymus
9	chr21:47054400-47054800	Active TSS	NHDF-Ad	bronchial
10	chr21:47054400-47055000	Active TSS	HSMMtube	muscle
11	chr21:47054400-47055200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr21:47054400-47055200	Enhancers	HSMM	muscle
13	chr21:47054400-47055200	Enhancers	Osteobl	bone
14	chr21:47054400-47055400	Enhancers	Primary B cells from peripheral blood	blood
15	chr21:47054400-47056200	Enhancers	Gastric	stomach
16	chr21:47054600-47054800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:47054600-47054800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:47054600-47054800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:47054600-47054800	Flanking Active TSS	Thymus	Thymus
20	chr21:47054600-47054800	Active TSS	GM12878-XiMat	blood
21	chr21:47054600-47055000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr21:47054800-47055000	Active TSS	Fetal Kidney	kidney
23	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr21:47054800-47055200	Flanking Active TSS	GM12878-XiMat	blood
26	chr21:47054800-47055200	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
27	chr21:47054800-47055400	Bivalent Enhancer	Fetal Brain Male	brain
28	chr21:47054800-47056000	Transcr. at gene 5' and 3'	Thymus	Thymus
29	chr21:47054800-47056600	Enhancers	Pancreas	Pancrea
30	chr21:47054800-47057200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:47055000-47055400	Enhancers	HSMMtube	muscle
32	chr21:47055000-47055600	Active TSS	Fetal Thymus	thymus
33	chr21:47055000-47056400	ZNF genes & repeats	K562	blood
34	chr21:47055000-47056600	ZNF genes & repeats	Fetal Heart	heart
35	chr21:47055000-47056600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
36	chr21:47055000-47056600	Bivalent/Poised TSS	Fetal Lung	lung

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