Variant report

Variant	rs55919402
Chromosome Location	chr19:39526184-39526185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38780404..38782515-chr19:39525704..39527946,2	MCF-7	breast:
2	chr19:39520644..39523609-chr19:39524329..39528239,4	K562	blood:

Variant related genes	Relation type
ENSG00000161243	Chromatin interaction
ENSG00000267992	Chromatin interaction
ENSG00000167642	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10426382	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12151095	0.93[EUR][1000 genomes]
rs12151101	0.87[EUR][1000 genomes]
rs12151263	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151266	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151268	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151272	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55772809	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55854060	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55873651	0.87[EUR][1000 genomes]
rs55894804	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55966336	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063522	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56405021	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248416	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248895	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255339	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7258997	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259800	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8105813	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8107766	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107781	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108019	0.87[EUR][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
rs55919402	CTB-189B5.3	cis	Esophagus Mucosa	GTEx
rs55919402	FBXO27	cis	Esophagus Mucosa	GTEx

Chromatin state (count:17 , 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	chr19:39523800-39528400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr19:39523800-39528600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:39523800-39528600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:39523800-39528800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr19:39523800-39528800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:39523800-39528800	Weak transcription	K562	blood
9	chr19:39524400-39527400	Weak transcription	A549	lung
10	chr19:39524400-39528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:39524600-39527400	Weak transcription	Fetal Intestine Small	intestine
12	chr19:39524600-39528600	Weak transcription	Liver	Liver
13	chr19:39524800-39528600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:39525000-39526800	Weak transcription	Fetal Intestine Large	intestine
15	chr19:39525000-39528400	Weak transcription	NHEK	skin
16	chr19:39525000-39528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:39525200-39528600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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