Variant report

Variant	rs72762377
Chromosome Location	chr5:52548887-52548888
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: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10067414	0.81[EUR][1000 genomes]
rs10067418	0.81[EUR][1000 genomes]
rs10940304	0.81[EUR][1000 genomes]
rs10940308	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11740027	0.80[EUR][1000 genomes]
rs12517334	0.87[EUR][1000 genomes]
rs12520159	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1318732	0.87[EUR][1000 genomes]
rs1374052	0.81[EUR][1000 genomes]
rs1374053	0.81[EUR][1000 genomes]
rs1374054	0.81[EUR][1000 genomes]
rs1445985	0.81[EUR][1000 genomes]
rs1549247	0.81[EUR][1000 genomes]
rs16881173	0.87[EUR][1000 genomes]
rs16881189	0.84[EUR][1000 genomes]
rs17241927	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17242584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1813600	0.87[EUR][1000 genomes]
rs1816904	0.81[EUR][1000 genomes]
rs1960785	0.85[EUR][1000 genomes]
rs1960786	0.86[EUR][1000 genomes]
rs2112876	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2406615	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2406617	0.87[EUR][1000 genomes]
rs4361475	0.81[EUR][1000 genomes]
rs56296560	0.84[EUR][1000 genomes]
rs56909170	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58049370	0.81[EUR][1000 genomes]
rs61388559	0.81[EUR][1000 genomes]
rs62357405	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62357407	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62357430	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62357442	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6450115	0.81[EUR][1000 genomes]
rs6450116	0.80[EUR][1000 genomes]
rs6450117	0.81[EUR][1000 genomes]
rs6450120	0.81[EUR][1000 genomes]
rs6450121	0.81[EUR][1000 genomes]
rs6450122	0.81[EUR][1000 genomes]
rs6866517	0.81[EUR][1000 genomes]
rs6870259	0.81[EUR][1000 genomes]
rs6872591	0.81[EUR][1000 genomes]
rs6876789	0.81[EUR][1000 genomes]
rs6882524	0.81[EUR][1000 genomes]
rs6885965	0.81[EUR][1000 genomes]
rs6892815	0.81[EUR][1000 genomes]
rs6896855	0.81[EUR][1000 genomes]
rs6897000	0.81[EUR][1000 genomes]
rs6897965	0.81[EUR][1000 genomes]
rs6898261	0.81[EUR][1000 genomes]
rs6898901	0.81[EUR][1000 genomes]
rs731383	0.81[EUR][1000 genomes]
rs733420	0.81[EUR][1000 genomes]
rs733421	0.81[EUR][1000 genomes]
rs7704622	0.81[EUR][1000 genomes]
rs7705771	0.81[EUR][1000 genomes]
rs7707051	0.81[EUR][1000 genomes]
rs7720876	0.80[EUR][1000 genomes]
rs7721172	0.81[EUR][1000 genomes]
rs7734784	0.81[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	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	chr5:52546200-52549200	Weak transcription	NH-A	brain
3	chr5:52546200-52549400	Weak transcription	Aorta	Aorta
4	chr5:52546400-52549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:52546400-52549200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:52546600-52549000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:52546600-52549200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:52546800-52549400	Weak transcription	HSMMtube	muscle
9	chr5:52548200-52554400	Enhancers	NHEK	skin
10	chr5:52548600-52549600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:52548600-52549800	Enhancers	Dnd41	blood
12	chr5:52548600-52550000	Enhancers	Thymus	Thymus
13	chr5:52548600-52550200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:52548600-52550200	Enhancers	NHDF-Ad	bronchial
15	chr5:52548600-52550400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:52548600-52550400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:52548600-52550600	Enhancers	NHLF	lung
18	chr5:52548600-52561400	Enhancers	HMEC	breast
19	chr5:52548800-52549200	Weak transcription	A549	lung
20	chr5:52548800-52549400	Enhancers	Fetal Thymus	thymus
21	chr5:52548800-52549800	Enhancers	Hela-S3	cervix
22	chr5:52548800-52550200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:52548800-52550200	Enhancers	HSMM	muscle
24	chr5:52548800-52550200	Enhancers	Osteobl	bone
25	chr5:52548800-52551000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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