Variant report

Variant	esv1058680
Chromosome Location	chr21:47478278-47478366
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	chr21:47477438..47479279-chr21:47515180..47518074,2	K562	blood:

Variant related genes	Relation type
ENSG00000142173	chromatin interactions
ENSG00000227438	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371033151	chr21:47478280-47478281	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562641767	chr21:47478295-47478296	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536347551	chr21:47478304-47478305	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs112217720	chr21:47478313-47478314	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541926763	chr21:47478314-47478315	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs560066649	chr21:47478315-47478316	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527705421	chr21:47478335-47478336	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs552216526	chr21:47478342-47478343	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs376196410	chr21:47478343-47478344	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11909951	chr21:47478345-47478346	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11911011	chr21:47478346-47478347	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35481425	chr21:47478347-47478348	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47470400-47478800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:47471000-47478600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:47474600-47480400	Weak transcription	Aorta	Aorta
4	chr21:47476400-47478400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr21:47476400-47478600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr21:47476600-47479000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr21:47477000-47478400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:47477200-47478800	Bivalent Enhancer	Dnd41	blood
9	chr21:47477200-47479800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:47477200-47480000	Weak transcription	HSMM	muscle
11	chr21:47477200-47480000	Weak transcription	NH-A	brain
12	chr21:47477200-47480200	Weak transcription	Stomach Mucosa	stomach
13	chr21:47477200-47480200	Weak transcription	HSMMtube	muscle
14	chr21:47477400-47478400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:47477400-47479000	Enhancers	Fetal Thymus	thymus
16	chr21:47477400-47479800	Weak transcription	Right Atrium	heart
17	chr21:47477400-47479800	Weak transcription	Osteobl	bone
18	chr21:47477400-47480000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:47477400-47480000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:47477400-47480000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr21:47477400-47480000	Weak transcription	Adipose Nuclei	Adipose
22	chr21:47477400-47480000	Weak transcription	NHLF	lung
23	chr21:47477400-47480200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr21:47477600-47478600	Weak transcription	Right Ventricle	heart
25	chr21:47477600-47479600	Weak transcription	Spleen	Spleen
26	chr21:47477600-47480000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr21:47477600-47480000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr21:47477600-47480400	Weak transcription	Ovary	ovary
29	chr21:47477800-47478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:47477800-47479400	Weak transcription	NHDF-Ad	bronchial
31	chr21:47477800-47479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr21:47477800-47479800	Weak transcription	Colonic Mucosa	Colon
33	chr21:47477800-47480000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr21:47477800-47480200	Weak transcription	Colon Smooth Muscle	Colon
35	chr21:47477800-47480200	Weak transcription	Placenta	Placenta
36	chr21:47478000-47478400	Enhancers	Primary T cells from cord blood	blood
37	chr21:47478000-47479600	Enhancers	Primary hematopoietic stem cells	blood
38	chr21:47478000-47479800	Weak transcription	Fetal Muscle Leg	muscle
39	chr21:47478000-47481600	Weak transcription	Fetal Stomach	stomach
40	chr21:47478200-47478400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:47478200-47478600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr21:47478200-47478600	Weak transcription	Thymus	Thymus
43	chr21:47478200-47479800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr21:47478200-47480000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr21:47478200-47480200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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