Variant report

Variant	rs573424793
Chromosome Location	chr21:40571097-40571098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:
2	21:40565363-40575691..21:40718004-40719183	GM12878	blood:
3	chr21:40569031..40571999-chr21:40581201..40583406,2	K562	blood:
4	chr21:40276653..40279130-chr21:40568874..40571656,2	K562	blood:
5	chr21:40564655..40567110-chr21:40569434..40571576,2	MCF-7	breast:
6	chr21:40570372..40572709-chr21:40816957..40818525,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183527	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000185437	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1056683	chr21:40570023-40673210	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
3	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
4	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:40563000-40640600	Strong transcription	Placenta	Placenta
7	chr21:40563000-40643600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:40563200-40581000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:40563400-40653400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr21:40563400-40660000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:40563600-40575200	Strong transcription	HSMM	muscle
12	chr21:40563600-40588600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:40563600-40653600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr21:40563800-40575400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:40564600-40612600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr21:40564800-40587800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:40565000-40581200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:40565000-40592600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:40565000-40654600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr21:40565200-40579000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:40565200-40653600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr21:40565400-40571400	Strong transcription	Brain Hippocampus Middle	brain
23	chr21:40565400-40574600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr21:40565400-40575400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr21:40565400-40580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:40565400-40604200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:40565400-40612600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr21:40565400-40653600	Strong transcription	Dnd41	blood
29	chr21:40565600-40585600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr21:40565600-40590200	Strong transcription	Liver	Liver
31	chr21:40565600-40615000	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr21:40565800-40580600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr21:40565800-40581400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr21:40565800-40590600	Strong transcription	Fetal Thymus	thymus
35	chr21:40566000-40571200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr21:40566000-40573800	Strong transcription	Fetal Brain Female	brain
37	chr21:40566000-40574600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr21:40566000-40575000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr21:40566000-40575200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr21:40566000-40653600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:40566200-40571400	Strong transcription	Brain Anterior Caudate	brain
42	chr21:40566200-40574000	Strong transcription	Primary B cells from cord blood	blood
43	chr21:40566200-40575400	Strong transcription	NH-A	brain
44	chr21:40566200-40590600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr21:40566200-40590600	Strong transcription	Adipose Nuclei	Adipose
46	chr21:40566400-40575200	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr21:40566400-40575200	Strong transcription	Fetal Lung	lung
48	chr21:40566400-40580200	Strong transcription	K562	blood
49	chr21:40566400-40580800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr21:40566400-40613200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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