Variant report

Variant	rs532799
Chromosome Location	chr1:175852209-175852210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12034224	0.84[EUR][1000 genomes]
rs12071278	0.85[EUR][1000 genomes]
rs12402057	0.85[EUR][1000 genomes]
rs12406224	0.85[EUR][1000 genomes]
rs1570926	0.86[EUR][1000 genomes]
rs4652134	0.84[EUR][1000 genomes]
rs4652135	0.84[EUR][1000 genomes]
rs519424	0.84[ASN][1000 genomes]
rs565960	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv872560	chr1:175648631-175869554	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs532799	C1orf105	cis	cerebellum	SCAN
rs532799	SNORD78	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175843000-175855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:175847600-175857000	Weak transcription	Fetal Lung	lung
3	chr1:175848000-175853400	Weak transcription	Lung	lung
4	chr1:175848200-175853400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:175848200-175856800	Weak transcription	Adipose Nuclei	Adipose
6	chr1:175848400-175853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:175848400-175862600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:175848800-175853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:175850000-175852600	Weak transcription	Aorta	Aorta
10	chr1:175851000-175853200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:175851000-175853400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:175851000-175854000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:175851200-175853400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:175851200-175853800	Weak transcription	Fetal Brain Female	brain
15	chr1:175851200-175854400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:175851200-175854400	Weak transcription	Fetal Brain Male	brain
17	chr1:175851600-175852600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:175851600-175853400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:175851800-175853000	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:175851800-175853200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:175851800-175854400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:175851800-175854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:175851800-175857400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links