Variant report

Variant	rs12520306
Chromosome Location	chr5:90533013-90533014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:90528653..90536149-chr5:90676184..90681293,9	MCF-7	breast:
2	chr5:90528721..90530817-chr5:90532953..90535941,2	K562	blood:
3	chr5:90527291..90547553-chr5:90674171..90681359,33	K562	blood:
4	chr5:90530596..90533152-chr5:90665869..90667437,2	K562	blood:
5	chr5:90526439..90536882-chr5:90674746..90681872,22	K562	blood:
6	chr5:90527069..90534570-chr5:90675897..90682380,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

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

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

rs_ID	r²[population]
rs10474341	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10942626	0.86[MEX][hapmap];0.83[MKK][hapmap];0.82[TSI][hapmap];0.91[AMR][1000 genomes]
rs12188638	1.00[ASN][1000 genomes]
rs12514996	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12515116	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12521670	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12653995	0.95[ASN][1000 genomes]
rs12658748	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]
rs16869562	0.88[MEX][hapmap]
rs16869618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs2175437	1.00[AFR][1000 genomes]
rs56316727	0.91[ASN][1000 genomes]
rs56377435	0.91[ASN][1000 genomes]
rs58781250	0.82[ASN][1000 genomes]
rs61156097	1.00[AFR][1000 genomes]
rs72786311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786312	0.93[ASN][1000 genomes]
rs72786318	1.00[ASN][1000 genomes]
rs72786321	0.95[ASN][1000 genomes]
rs72786324	0.95[ASN][1000 genomes]
rs72786325	0.95[ASN][1000 genomes]
rs72786326	0.95[ASN][1000 genomes]
rs72786329	0.95[ASN][1000 genomes]
rs72786331	0.91[ASN][1000 genomes]
rs72786332	0.91[ASN][1000 genomes]
rs72786338	0.91[ASN][1000 genomes]
rs72786350	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72786353	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72786354	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72786358	1.00[AFR][1000 genomes]
rs72786360	1.00[AFR][1000 genomes]
rs9647558	1.00[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90525000-90542800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:90528600-90533600	Weak transcription	K562	blood
3	chr5:90530800-90539600	Weak transcription	Pancreas	Pancrea
4	chr5:90531400-90534200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:90532400-90533400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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