Variant report

Variant	rs153619
Chromosome Location	chr5:52548789-52548790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52546931..52549678-chr5:52551322..52553331,2	K562	blood:
2	chr5:52541978..52544639-chr5:52547451..52550337,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1025027	0.90[EUR][1000 genomes]
rs10940307	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13171110	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13175197	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1363919	0.82[EUR][1000 genomes]
rs1363920	0.82[ASN][1000 genomes]
rs1392541	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs153618	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs153621	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17242004	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs192262	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs254146	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs254198	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs254199	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs254503	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2548321	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27324	0.83[AFR][1000 genomes]
rs34721303	0.83[EUR][1000 genomes]
rs34949026	0.85[EUR][1000 genomes]
rs3910971	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs39860	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4865543	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4865762	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4865763	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4865764	0.84[ASN][1000 genomes]
rs57244200	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67239762	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7737693	0.84[ASN][1000 genomes]
rs7737805	0.83[ASN][1000 genomes]
rs977575	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs977576	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[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:25 , 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	chr5:52546200-52548800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:52546200-52548800	Weak transcription	Hela-S3	cervix
4	chr5:52546200-52549200	Weak transcription	NH-A	brain
5	chr5:52546200-52549400	Weak transcription	Aorta	Aorta
6	chr5:52546400-52548800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:52546400-52548800	Weak transcription	Osteobl	bone
8	chr5:52546400-52549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:52546400-52549200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:52546600-52549000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:52546600-52549200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:52546800-52548800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:52546800-52548800	Weak transcription	HSMM	muscle
14	chr5:52546800-52549400	Weak transcription	HSMMtube	muscle
15	chr5:52548200-52554400	Enhancers	NHEK	skin
16	chr5:52548600-52548800	Enhancers	A549	lung
17	chr5:52548600-52549600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:52548600-52549800	Enhancers	Dnd41	blood
19	chr5:52548600-52550000	Enhancers	Thymus	Thymus
20	chr5:52548600-52550200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:52548600-52550200	Enhancers	NHDF-Ad	bronchial
22	chr5:52548600-52550400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:52548600-52550400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:52548600-52550600	Enhancers	NHLF	lung
25	chr5:52548600-52561400	Enhancers	HMEC	breast

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