Variant report

Variant	rs255930
Chromosome Location	chr5:111345538-111345539
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	chr5:111338145..111340158-chr5:111345203..111347809,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10059738	0.80[ASN][1000 genomes]
rs10463623	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10463624	0.95[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11241146	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1493453	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1494585	0.85[ASN][1000 genomes]
rs2047070	0.94[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2048155	0.90[CEU][hapmap];0.86[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs255910	0.84[ASN][1000 genomes]
rs255928	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255929	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs25790	0.84[JPT][hapmap]
rs26539	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26540	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26541	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26543	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26545	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs26546	0.85[ASN][1000 genomes]
rs26557	0.90[ASN][1000 genomes]
rs26558	0.90[ASN][1000 genomes]
rs26559	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26560	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs26561	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26562	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26563	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27535	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34924	0.84[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34928	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34930	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34931	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34941	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34942	0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35303575	0.86[ASN][1000 genomes]
rs35658682	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36061964	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36069145	0.84[ASN][1000 genomes]
rs36133922	0.84[ASN][1000 genomes]
rs41142	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs42308	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs466033	0.84[JPT][hapmap]
rs490983	0.82[ASN][1000 genomes]
rs504582	0.80[ASN][1000 genomes]
rs508089	0.82[ASN][1000 genomes]
rs593236	0.82[ASN][1000 genomes]
rs624694	0.96[CHB][hapmap];0.85[JPT][hapmap]
rs6881837	0.81[ASN][1000 genomes]
rs6882205	0.82[ASN][1000 genomes]
rs712660	0.82[ASN][1000 genomes]
rs7710690	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7730997	0.84[ASN][1000 genomes]
rs7735316	0.82[ASN][1000 genomes]
rs9326846	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs980888	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]

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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2829846	chr5:111341445-111435769	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111341600-111349200	Weak transcription	Adipose Nuclei	Adipose
2	chr5:111342000-111346400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:111342800-111347600	Weak transcription	NHLF	lung
4	chr5:111342800-111347800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:111343000-111346200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:111343000-111347600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:111343000-111347600	Weak transcription	NHDF-Ad	bronchial
8	chr5:111343000-111348000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:111343200-111346600	Weak transcription	Fetal Stomach	stomach
10	chr5:111343200-111347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:111343200-111347600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:111343200-111347600	Weak transcription	NH-A	brain
13	chr5:111343600-111349400	Weak transcription	Osteobl	bone

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