Variant report

Variant	rs4802010
Chromosome Location	chr19:39528422-39528423
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	CTCF	chr19:39528137-39529307	A549	lung:	n/a	chr19:39528990-39529008

No.	Distal block	Cell Line	Cell type
1	chr19:39526693..39529184-chr19:39566725..39569356,2	K562	blood:
2	chr19:39451089..39454157-chr19:39527302..39529882,3	MCF-7	breast:
3	chr19:39527434..39530385-chr19:39532161..39533802,2	K562	blood:
4	chr19:39519377..39524107-chr19:39526689..39529929,4	MCF-7	breast:

Variant related genes	Relation type
FBXO27	TF binding region
ENSG00000267992	Chromatin interaction
ENSG00000161243	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10409280	0.84[ASN][1000 genomes]
rs10411234	0.93[ASN][1000 genomes]
rs12151099	0.81[ASN][1000 genomes]
rs12463075	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12609401	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12974080	0.91[ASN][1000 genomes]
rs12974708	0.84[ASN][1000 genomes]
rs12975482	0.85[ASN][1000 genomes]
rs12976100	0.84[ASN][1000 genomes]
rs12979968	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981133	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12981826	0.88[EUR][1000 genomes]
rs12982067	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12983352	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12984833	0.83[ASN][1000 genomes]
rs12984836	0.83[ASN][1000 genomes]
rs13345897	0.81[ASN][1000 genomes]
rs1626050	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1627631	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1628376	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1628426	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1629253	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1651747	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16973058	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1864186	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1864188	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1869982	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318897	0.81[ASN][1000 genomes]
rs34240661	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34366439	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35000840	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35622111	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35940388	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4381706	0.89[EUR][1000 genomes]
rs4511651	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs487356	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs516901	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs523890	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs523943	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs542464	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs553330	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs554932	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs561148	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs561329	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs572764	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57401831	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57588219	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs57724551	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs582575	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582593	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs583529	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs583995	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs584806	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs584822	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs586107	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs586176	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59698424	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs598468	0.92[ASN][1000 genomes]
rs599230	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs602899	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61553368	0.95[ASN][1000 genomes]
rs618068	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62119464	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62119508	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62119510	0.94[ASN][1000 genomes]
rs62121528	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62121529	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62121530	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62121532	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs662202	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs667911	0.83[EUR][1000 genomes]
rs678772	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs678848	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679657	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs679732	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7246076	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs930100	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963126	chr19:39521120-39552490	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4802010	FBXO27	cis	Skin Sun Exposed Lower leg	GTEx
rs4802010	FBXO27	cis	Artery Tibial	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39523400-39529000	Weak transcription	Esophagus	oesophagus
2	chr19:39523400-39535400	Weak transcription	Right Atrium	heart
3	chr19:39523800-39528600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:39523800-39528600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:39523800-39528800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:39523800-39528800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:39523800-39528800	Weak transcription	K562	blood
8	chr19:39524400-39528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr19:39524600-39528600	Weak transcription	Liver	Liver
10	chr19:39524800-39528600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:39525000-39528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:39525200-39528600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:39526800-39531400	Enhancers	Fetal Intestine Large	intestine
14	chr19:39527400-39528600	Enhancers	HepG2	liver
15	chr19:39527400-39529000	Enhancers	A549	lung
16	chr19:39527800-39529200	Enhancers	Placenta	Placenta
17	chr19:39528200-39528600	Weak transcription	Fetal Intestine Small	intestine
18	chr19:39528400-39529000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr19:39528400-39529000	Enhancers	NHEK	skin

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