Variant report

Variant	esv3323121
Chromosome Location	chr21:47478172-47478637
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	chr21:47476412..47478192-chr21:47563693..47565789,2	K562	blood:
2	chr21:47477438..47479279-chr21:47515180..47518074,2	K562	blood:

Variant related genes	Relation type
ENSG00000160282	chromatin interactions
ENSG00000227438	chromatin interactions
ENSG00000142173	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553762559	chr21:47478179-47478180	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs34278752	chr21:47478199-47478200	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184499367	chr21:47478212-47478213	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs557784921	chr21:47478241-47478242	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112713689	chr21:47478257-47478258	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550562734	chr21:47478258-47478259	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs9978887	chr21:47478272-47478273	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	rs531912422	chr21:47478379-47478380	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs142142984	chr21:47478411-47478412	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs527595292	chr21:47478418-47478419	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs114542143	chr21:47478435-47478436	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs199945015	chr21:47478448-47478449	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376100945	chr21:47478451-47478452	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144692121	chr21:47478456-47478457	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs386819397	chr21:47478458-47478459	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs386819398	chr21:47478462-47478463	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs11910344	chr21:47478464-47478465	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs369247638	chr21:47478467-47478468	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568679320	chr21:47478531-47478532	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs535497206	chr21:47478546-47478547	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572397331	chr21:47478572-47478573	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs75777801	chr21:47478578-47478579	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547538802	chr21:47478585-47478586	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565637998	chr21:47478600-47478601	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539098238	chr21:47478611-47478612	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200186925	chr21:47478624-47478625	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	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:61 , 50 per page) page: 1 2

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	chr21:47477000-47478200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:47477000-47478400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:47477200-47478200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr21:47477200-47478800	Bivalent Enhancer	Dnd41	blood
11	chr21:47477200-47479800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr21:47477200-47480000	Weak transcription	HSMM	muscle
13	chr21:47477200-47480000	Weak transcription	NH-A	brain
14	chr21:47477200-47480200	Weak transcription	Stomach Mucosa	stomach
15	chr21:47477200-47480200	Weak transcription	HSMMtube	muscle
16	chr21:47477400-47478200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr21:47477400-47478200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:47477400-47478400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47477400-47479000	Enhancers	Fetal Thymus	thymus
20	chr21:47477400-47479800	Weak transcription	Right Atrium	heart
21	chr21:47477400-47479800	Weak transcription	Osteobl	bone
22	chr21:47477400-47480000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:47477400-47480000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:47477400-47480000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:47477400-47480000	Weak transcription	Adipose Nuclei	Adipose
26	chr21:47477400-47480000	Weak transcription	NHLF	lung
27	chr21:47477400-47480200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr21:47477600-47478600	Weak transcription	Right Ventricle	heart
29	chr21:47477600-47479600	Weak transcription	Spleen	Spleen
30	chr21:47477600-47480000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:47477600-47480000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:47477600-47480400	Weak transcription	Ovary	ovary
33	chr21:47477800-47478200	Enhancers	Stomach Smooth Muscle	stomach
34	chr21:47477800-47478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:47477800-47479400	Weak transcription	NHDF-Ad	bronchial
36	chr21:47477800-47479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:47477800-47479800	Weak transcription	Colonic Mucosa	Colon
38	chr21:47477800-47480000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr21:47477800-47480200	Weak transcription	Colon Smooth Muscle	Colon
40	chr21:47477800-47480200	Weak transcription	Placenta	Placenta
41	chr21:47478000-47478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:47478000-47478200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr21:47478000-47478400	Enhancers	Primary T cells from cord blood	blood
44	chr21:47478000-47479600	Enhancers	Primary hematopoietic stem cells	blood
45	chr21:47478000-47479800	Weak transcription	Fetal Muscle Leg	muscle
46	chr21:47478000-47481600	Weak transcription	Fetal Stomach	stomach
47	chr21:47478200-47478400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr21:47478200-47478600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr21:47478200-47478600	Weak transcription	Thymus	Thymus
50	chr21:47478200-47479800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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