Variant report

Variant	rs10505290
Chromosome Location	chr8:117957812-117957813
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr8:117957570-117957919	HL-60	blood:	n/a	chr8:117957767-117957780

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:117950391..117953601-chr8:117955778..117958546,3	K562	blood:
2	chr8:117950391..117953152-chr8:117955778..117958546,2	K562	blood:

Variant related genes	Relation type
SLC30A8	TF binding region
ENSG00000205002	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16889300	1.00[AFR][1000 genomes]
rs17812503	1.00[AMR][1000 genomes]
rs4339677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv891409	chr8:117948986-117972064	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117951200-117962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:117953800-117958200	Weak transcription	Psoas Muscle	Psoas
3	chr8:117956400-117958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:117957200-117958800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:117957200-117958800	Enhancers	Fetal Lung	lung
6	chr8:117957200-117961200	Enhancers	Colon Smooth Muscle	Colon
7	chr8:117957400-117958000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:117957400-117958000	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:117957400-117958200	Enhancers	Brain Substantia Nigra	brain
10	chr8:117957400-117959200	Enhancers	Dnd41	blood
11	chr8:117957400-117959400	Enhancers	Brain Germinal Matrix	brain
12	chr8:117957600-117958000	Enhancers	Brain Hippocampus Middle	brain
13	chr8:117957600-117958200	Enhancers	Brain Anterior Caudate	brain
14	chr8:117957600-117958200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:117957600-117958400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:117957600-117958400	Enhancers	Rectal Smooth Muscle	rectum
17	chr8:117957600-117958800	Enhancers	Fetal Brain Female	brain
18	chr8:117957600-117960400	Enhancers	Fetal Muscle Leg	muscle
19	chr8:117957800-117958000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr8:117957800-117958000	Enhancers	Brain Cingulate Gyrus	brain
21	chr8:117957800-117958200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:117957800-117958200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:117957800-117958400	Enhancers	Fetal Muscle Trunk	muscle
24	chr8:117957800-117958800	Enhancers	Fetal Brain Male	brain
25	chr8:117957800-117960000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links