Variant report

Variant	rs12658748
Chromosome Location	chr5:90523323-90523324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90513015..90523645-chr5:90674785..90682171,21	K562	blood:
2	chr5:90512455..90524285-chr5:90673793..90683360,52	MCF-7	breast:
3	chr5:90510244..90526030-chr5:90672528..90682389,53	MCF-7	breast:
4	chr5:90512732..90524610-chr5:90674652..90682171,24	K562	blood:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10474341	0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.95[ASN][1000 genomes]
rs10942626	0.86[MEX][hapmap];0.83[MKK][hapmap];0.91[AMR][1000 genomes]
rs12188638	0.95[ASN][1000 genomes]
rs12514996	0.88[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12515116	0.90[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs12520306	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12521670	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12653995	0.90[ASN][1000 genomes]
rs16869562	0.88[MEX][hapmap]
rs16869618	0.85[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.95[ASN][1000 genomes]
rs2175437	1.00[AFR][1000 genomes]
rs56316727	0.86[ASN][1000 genomes]
rs56377435	0.86[ASN][1000 genomes]
rs61156097	1.00[AFR][1000 genomes]
rs72786311	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786312	0.89[ASN][1000 genomes]
rs72786318	0.95[ASN][1000 genomes]
rs72786321	0.90[ASN][1000 genomes]
rs72786324	0.90[ASN][1000 genomes]
rs72786325	0.90[ASN][1000 genomes]
rs72786326	0.90[ASN][1000 genomes]
rs72786329	0.90[ASN][1000 genomes]
rs72786331	0.86[ASN][1000 genomes]
rs72786332	0.86[ASN][1000 genomes]
rs72786338	0.86[ASN][1000 genomes]
rs72786350	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72786353	1.00[AFR][1000 genomes]
rs72786354	1.00[AFR][1000 genomes]
rs72786358	1.00[AFR][1000 genomes]
rs72786360	1.00[AFR][1000 genomes]
rs9647558	0.95[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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90515600-90524200	Weak transcription	HMEC	breast
2	chr5:90515600-90524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:90520800-90523400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:90521000-90523800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:90521200-90523600	Weak transcription	Hela-S3	cervix
6	chr5:90521200-90524400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:90521200-90530400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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