Variant report

Variant	rs10065699
Chromosome Location	chr5:58384144-58384145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10065303	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10076635	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10452450	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12109774	0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13360359	0.82[JPT][hapmap]
rs16889167	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16889175	0.86[JPT][hapmap];0.81[YRI][hapmap]
rs17721133	0.81[CEU][hapmap]
rs17721564	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55801062	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62356687	1.00[ASN][1000 genomes]
rs6869400	0.86[JPT][hapmap]
rs950446	0.91[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.89[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58376400-58388200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:58376400-58389200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:58376400-58390400	Weak transcription	Hela-S3	cervix
4	chr5:58376600-58386200	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:58376600-58387000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:58376800-58385800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:58378200-58391800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:58383200-58385800	Weak transcription	Fetal Heart	heart
9	chr5:58383400-58384200	Weak transcription	Psoas Muscle	Psoas
10	chr5:58383800-58385200	Genic enhancers	A549	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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