Variant report

Variant	rs548843253
Chromosome Location	chr22:31504509-31504510
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31500412..31502253-chr22:31504112..31506575,2	MCF-7	breast:
2	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
3	chr22:31503716..31506143-chr22:31686783..31689099,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273387	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv964621	chr22:31503851-31509520	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31504200-31504600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr22:31504200-31504600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr22:31504200-31504600	Enhancers	Primary T cells fromperipheralblood	blood
4	chr22:31504200-31504600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr22:31504200-31504600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:31504200-31504600	Enhancers	Fetal Lung	lung
7	chr22:31504200-31504600	Enhancers	Fetal Muscle Trunk	muscle
8	chr22:31504200-31504600	Enhancers	Fetal Stomach	stomach
9	chr22:31504200-31504800	Enhancers	Fetal Brain Male	brain
10	chr22:31504200-31504800	Enhancers	Fetal Heart	heart
11	chr22:31504200-31515000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:31504200-31515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:31504400-31504600	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr22:31504400-31504600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:31504400-31504600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:31504400-31504600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:31504400-31504600	Active TSS	Brain Germinal Matrix	brain
18	chr22:31504400-31504600	Active TSS	Fetal Brain Female	brain
19	chr22:31504400-31504600	Enhancers	Fetal Intestine Large	intestine
20	chr22:31504400-31506600	Weak transcription	HepG2	liver
21	chr22:31504400-31517800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr22:31504400-31518000	Weak transcription	Rectal Smooth Muscle	rectum

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