Variant report

Variant	rs10940430
Chromosome Location	chr5:54158529-54158530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10040872	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10042734	0.95[ASN][1000 genomes]
rs1005622	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10056452	0.98[ASN][1000 genomes]
rs10940431	0.98[ASN][1000 genomes]
rs10940432	0.98[ASN][1000 genomes]
rs10940434	0.96[ASN][1000 genomes]
rs11738151	0.95[ASN][1000 genomes]
rs11742711	1.00[ASN][1000 genomes]
rs11953607	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12657845	1.00[ASN][1000 genomes]
rs13181749	0.97[ASN][1000 genomes]
rs1560165	0.98[ASN][1000 genomes]
rs1560166	0.98[ASN][1000 genomes]
rs1560167	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17588816	0.82[ASN][1000 genomes]
rs1991498	0.83[AFR][1000 genomes]
rs2017082	0.93[ASN][1000 genomes]
rs2019005	0.98[ASN][1000 genomes]
rs2195392	0.98[ASN][1000 genomes]
rs2195393	0.98[ASN][1000 genomes]
rs28564901	0.83[ASN][1000 genomes]
rs3916738	0.95[ASN][1000 genomes]
rs4242050	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4315891	0.81[EUR][1000 genomes]
rs4320216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4373237	0.81[EUR][1000 genomes]
rs4407587	0.81[EUR][1000 genomes]
rs4502767	0.92[ASN][1000 genomes]
rs4865586	0.81[EUR][1000 genomes]
rs4865879	0.99[ASN][1000 genomes]
rs4865880	0.99[ASN][1000 genomes]
rs4865881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865882	0.95[ASN][1000 genomes]
rs737526	0.89[ASN][1000 genomes]
rs7708368	0.81[EUR][1000 genomes]
rs7709516	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3358092	chr5:54077828-54189150	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv598179	chr5:54156269-54192823	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54155800-54163000	Weak transcription	Aorta	Aorta
2	chr5:54156600-54158600	Enhancers	HSMM	muscle
3	chr5:54156600-54158800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:54156600-54159200	Enhancers	NHLF	lung
5	chr5:54158000-54158600	Enhancers	Osteobl	bone
6	chr5:54158000-54158800	Enhancers	NH-A	brain
7	chr5:54158200-54158800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:54158200-54163000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:54158200-54163000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:54158200-54163000	Weak transcription	Ovary	ovary
11	chr5:54158200-54166600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:54158400-54163000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:54158400-54163000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:54158400-54163000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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