Variant report

Variant	rs153618
Chromosome Location	chr5:52550239-52550240
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52541978..52544639-chr5:52547451..52550337,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1025027	0.90[EUR][1000 genomes]
rs10940307	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13171110	0.85[EUR][1000 genomes]
rs13175197	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1363919	0.82[EUR][1000 genomes]
rs1363920	0.82[ASN][1000 genomes]
rs1392541	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs153619	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153621	0.80[EUR][1000 genomes]
rs17242004	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs192262	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs254146	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs254198	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs254199	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs254503	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2548321	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34721303	0.83[EUR][1000 genomes]
rs34949026	0.85[EUR][1000 genomes]
rs3910971	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs39860	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4865543	0.89[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4865762	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4865763	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4865764	0.82[ASN][1000 genomes]
rs57244200	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67239762	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7737693	0.82[ASN][1000 genomes]
rs7737805	0.81[ASN][1000 genomes]
rs977575	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs977576	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][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	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52541800-52559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:52548200-52554400	Enhancers	NHEK	skin
3	chr5:52548600-52550400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:52548600-52550400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:52548600-52550600	Enhancers	NHLF	lung
6	chr5:52548600-52561400	Enhancers	HMEC	breast
7	chr5:52548800-52551000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:52549200-52551200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:52549600-52552000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:52549800-52552800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:52550000-52552600	Weak transcription	HSMMtube	muscle
12	chr5:52550000-52558800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:52550200-52552400	Weak transcription	NH-A	brain
14	chr5:52550200-52552400	Weak transcription	Osteobl	bone
15	chr5:52550200-52552800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:52550200-52552800	Weak transcription	HSMM	muscle
17	chr5:52550200-52556600	Weak transcription	NHDF-Ad	bronchial
18	chr5:52550200-52556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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