Variant report

Variant	rs1786569
Chromosome Location	chr18:11846088-11846089
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:11844070..11848990-chr18:11849011..11853292,8	K562	blood:
2	chr18:11844551..11846873-chr18:11850097..11853641,4	K562	blood:
3	chr18:11843998..11847439-chr18:11850128..11853196,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267165	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1249624	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1249630	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607581	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607811	0.91[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1614379	0.82[CEU][hapmap]
rs1647558	0.81[CEU][hapmap]
rs1647561	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16976739	0.87[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs16976750	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs1786564	0.82[CEU][hapmap]
rs1786566	0.81[CEU][hapmap]
rs1786567	0.82[CEU][hapmap]
rs1786570	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1786573	0.88[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2276134	0.80[ASN][1000 genomes]
rs4324196	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206349	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72868655	0.81[ASN][1000 genomes]
rs72868658	0.81[ASN][1000 genomes]
rs9962908	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs9966733	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11825400-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr18:11830800-11849000	Weak transcription	A549	lung
3	chr18:11837400-11849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:11837400-11849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:11840400-11849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:11841000-11849600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:11841000-11849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:11841200-11849400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11845000-11849200	Weak transcription	HMEC	breast
10	chr18:11845200-11846200	Enhancers	K562	blood
11	chr18:11846000-11846200	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links