Variant report

Variant	rs1374053
Chromosome Location	chr5:52542403-52542404
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	chr5:52541978..52544639-chr5:52547451..52550337,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10043264	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10067414	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10067418	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10070123	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10070508	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10071518	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10075591	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10940294	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10940296	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10940304	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11740027	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11743062	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11745943	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11955319	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12517334	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12521034	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1318732	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1374052	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1374054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1445992	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1549247	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16774	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16881069	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16881173	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881189	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17242584	0.81[EUR][1000 genomes]
rs1813600	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1816904	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1838736	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1960785	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1960786	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2406615	0.80[EUR][1000 genomes]
rs2406617	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2897474	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2897475	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34277022	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4106003	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4361475	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56197881	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56296560	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56686182	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58049370	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61125444	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61388559	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62357406	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62357423	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62357424	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62357427	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62357430	0.80[EUR][1000 genomes]
rs62357442	0.81[EUR][1000 genomes]
rs6414820	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6450112	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6450113	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6450115	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450116	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450117	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450120	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450121	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6450122	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6858900	0.81[AMR][1000 genomes]
rs6860071	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6863326	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6866517	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6870259	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6872525	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872541	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6872591	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6872934	0.82[AMR][1000 genomes]
rs6873915	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6875198	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6876789	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6882524	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6885092	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6885965	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6892815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6894500	0.81[AMR][1000 genomes]
rs6895908	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6896855	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6896916	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6897000	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6897066	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6897187	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6897912	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6897965	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6898261	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6898901	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72762377	0.81[EUR][1000 genomes]
rs731383	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs733421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7702548	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7704622	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7705771	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7705986	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7707051	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7707949	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7708237	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7709320	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7710423	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7711335	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7720876	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7721172	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7724504	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7724705	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7725098	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7725139	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7725380	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7725467	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7726216	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7726834	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7734784	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9292012	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9292013	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9918202	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv515913	chr5:52492677-52545841	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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
6	nsv880833	chr5:52502168-52544231	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52539800-52542800	Enhancers	NHLF	lung
2	chr5:52540000-52543200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:52540600-52543000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:52540600-52543200	Enhancers	HSMM	muscle
5	chr5:52540600-52546400	Enhancers	NHEK	skin
6	chr5:52540800-52542600	Enhancers	HSMMtube	muscle
7	chr5:52541200-52542600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:52541200-52542600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:52541600-52544400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:52541800-52542800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:52541800-52559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:52542000-52542600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:52542000-52542600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:52542000-52542600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr5:52542000-52542600	Flanking Active TSS	K562	blood
16	chr5:52542000-52542800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:52542200-52542600	Flanking Active TSS	NHDF-Ad	bronchial
18	chr5:52542200-52542600	Flanking Active TSS	Osteobl	bone
19	chr5:52542200-52542800	Flanking Active TSS	HMEC	breast
20	chr5:52542200-52546200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:52542400-52542600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:52542400-52542600	Enhancers	NH-A	brain
23	chr5:52542400-52543000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:52542400-52545000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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