Variant report

Variant	rs902593
Chromosome Location	chr5:125032751-125032752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11745751	0.89[ASN][1000 genomes]
rs11950923	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11954141	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11955142	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11955150	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12374445	0.89[ASN][1000 genomes]
rs1490976	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1490981	0.81[AMR][1000 genomes]
rs1490994	0.86[ASN][1000 genomes]
rs17153120	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17153142	0.81[ASN][1000 genomes]
rs17153195	0.83[AMR][1000 genomes]
rs17153198	0.83[AMR][1000 genomes]
rs2087639	0.86[ASN][1000 genomes]
rs2101603	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28684625	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34407148	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35380838	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35762924	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62385960	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385965	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62385966	0.81[AMR][1000 genomes]
rs62385967	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6595623	0.89[ASN][1000 genomes]
rs66490821	0.81[AMR][1000 genomes]
rs6865600	0.83[AMR][1000 genomes]
rs6883544	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7707067	0.83[AMR][1000 genomes]
rs7723274	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs902594	0.90[ASN][1000 genomes]
rs902595	0.90[ASN][1000 genomes]
rs989983	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv534468	chr5:124943170-125634960	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv462441	chr5:124969756-125034613	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv599659	chr5:124969756-125034613	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:125021800-125055400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:125031000-125033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:125031200-125033200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:125031400-125033200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:125031600-125033400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:125031800-125033200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:125031800-125033200	Enhancers	HMEC	breast
8	chr5:125031800-125033200	Enhancers	NH-A	brain
9	chr5:125031800-125033200	Enhancers	Osteobl	bone
10	chr5:125031800-125033400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:125031800-125033400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:125032000-125032800	Enhancers	Hela-S3	cervix
13	chr5:125032000-125033200	Enhancers	HSMM	muscle
14	chr5:125032000-125033400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:125032000-125033400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:125032200-125032800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:125032200-125033000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:125032200-125033200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:125032200-125033200	Enhancers	NHEK	skin
20	chr5:125032400-125033400	Enhancers	NHDF-Ad	bronchial
21	chr5:125032600-125033000	Enhancers	Fetal Intestine Small	intestine
22	chr5:125032600-125033000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr5:125032600-125033200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:125032600-125033200	Enhancers	Rectal Mucosa Donor 31	rectum

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