Variant report

Variant	rs60094908
Chromosome Location	chr5:108348227-108348228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs17161573	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17161574	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3797822	0.92[EUR][1000 genomes]
rs3851456	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56381733	0.81[ASN][1000 genomes]
rs56792678	0.92[EUR][1000 genomes]
rs58620246	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58642014	0.92[EUR][1000 genomes]
rs58834152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59055229	0.81[ASN][1000 genomes]
rs59699586	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59923567	0.92[EUR][1000 genomes]
rs60144513	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61090818	0.92[EUR][1000 genomes]
rs61155278	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6594344	0.93[ASN][1000 genomes]
rs67338203	0.81[ASN][1000 genomes]
rs6872912	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73209338	0.92[EUR][1000 genomes]
rs73209345	0.92[EUR][1000 genomes]
rs73209352	0.92[EUR][1000 genomes]
rs73209366	0.92[EUR][1000 genomes]
rs73211537	0.92[EUR][1000 genomes]
rs73211547	0.92[EUR][1000 genomes]
rs73211557	0.92[EUR][1000 genomes]
rs73211567	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73211580	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73211584	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73211589	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211590	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73211596	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73213504	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73780769	0.85[EUR][1000 genomes]
rs7715534	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7723612	0.92[EUR][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	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv4952	chr5:108324146-108369353	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108301600-108361200	Weak transcription	Primary T cells from cord blood	blood
2	chr5:108329600-108359600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:108330200-108351800	Weak transcription	Fetal Lung	lung
4	chr5:108332600-108359400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:108332800-108359800	Weak transcription	Adipose Nuclei	Adipose
6	chr5:108333400-108351600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:108341000-108360000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:108341200-108359800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:108341800-108359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:108342200-108359800	Weak transcription	NHEK	skin
11	chr5:108344800-108349800	Weak transcription	NH-A	brain
12	chr5:108346400-108359800	Weak transcription	Left Ventricle	heart

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