Variant report

Variant	rs55712004
Chromosome Location	chr5:111816081-111816082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111809237..111810846-chr5:111815691..111818419,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10069134	0.89[EUR][1000 genomes]
rs10463433	1.00[ASN][1000 genomes]
rs11241160	1.00[ASN][1000 genomes]
rs12187589	1.00[ASN][1000 genomes]
rs12187787	1.00[ASN][1000 genomes]
rs12187819	1.00[ASN][1000 genomes]
rs1318178	1.00[ASN][1000 genomes]
rs1560061	1.00[ASN][1000 genomes]
rs17134348	1.00[ASN][1000 genomes]
rs17271934	1.00[ASN][1000 genomes]
rs17343994	1.00[ASN][1000 genomes]
rs17345175	1.00[ASN][1000 genomes]
rs17354763	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17354833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1896620	1.00[ASN][1000 genomes]
rs1896621	1.00[ASN][1000 genomes]
rs2067096	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs386446	1.00[ASN][1000 genomes]
rs4292487	1.00[ASN][1000 genomes]
rs55650579	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55814486	1.00[ASN][1000 genomes]
rs55845736	1.00[ASN][1000 genomes]
rs56293447	1.00[ASN][1000 genomes]
rs56307310	1.00[ASN][1000 genomes]
rs61061658	1.00[ASN][1000 genomes]
rs62365251	1.00[ASN][1000 genomes]
rs62365255	1.00[ASN][1000 genomes]
rs6594588	1.00[ASN][1000 genomes]
rs66521031	1.00[ASN][1000 genomes]
rs66550707	1.00[ASN][1000 genomes]
rs66814803	1.00[ASN][1000 genomes]
rs67033649	1.00[ASN][1000 genomes]
rs6878117	1.00[ASN][1000 genomes]
rs6893877	1.00[ASN][1000 genomes]
rs6894036	1.00[ASN][1000 genomes]
rs72781677	1.00[ASN][1000 genomes]
rs72781678	1.00[ASN][1000 genomes]
rs72783628	1.00[ASN][1000 genomes]
rs72783634	1.00[ASN][1000 genomes]
rs7722291	1.00[ASN][1000 genomes]
rs821736	1.00[ASN][1000 genomes]
rs821749	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111812200-111816800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:111812400-111816800	Weak transcription	Brain Substantia Nigra	brain
3	chr5:111813800-111816600	Enhancers	Placenta	Placenta
4	chr5:111813800-111817000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:111814000-111816800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:111814200-111816200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:111814200-111816200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:111814200-111816600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:111814400-111816200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:111814400-111816600	Enhancers	HMEC	breast
11	chr5:111814800-111816400	Enhancers	NHEK	skin
12	chr5:111815600-111816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:111815800-111819400	Weak transcription	HUVEC	blood vessel

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