Variant report

Variant	rs1511344
Chromosome Location	chr5:90582914-90582915
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90576670..90579528-chr5:90581410..90583361,2	K562	blood:
2	chr5:90582436..90584317-chr5:90598208..90599728,2	K562	blood:
3	chr5:90576031..90578202-chr5:90580152..90582939,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234292	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10038090	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10061355	0.83[ASN][1000 genomes]
rs10462343	0.90[ASN][1000 genomes]
rs10462492	0.96[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs10474346	0.85[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10474347	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs10805873	0.85[ASN][1000 genomes]
rs12697807	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs13171635	0.97[ASN][1000 genomes]
rs1511345	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1543066	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858309	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2048451	0.86[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2048452	0.86[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4019243	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4019302	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4364415	0.88[ASN][1000 genomes]
rs4377733	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4424024	0.83[ASN][1000 genomes]
rs4518439	0.83[EUR][1000 genomes]
rs6859170	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6869552	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6882172	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6885341	0.88[ASN][1000 genomes]
rs6888389	0.86[ASN][1000 genomes]
rs6888674	0.86[ASN][1000 genomes]
rs6889197	0.93[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6897578	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6898622	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7709572	0.86[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7719516	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7724489	0.86[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.82[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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90576800-90583800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:90577600-90583800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:90577800-90583800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:90579800-90584800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:90580000-90583800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:90580200-90584800	Weak transcription	Small Intestine	intestine
7	chr5:90580400-90583800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:90580400-90583800	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:90580400-90587200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:90581600-90583800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:90582200-90583400	Weak transcription	Placenta	Placenta

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