Variant report

Variant	rs12514618
Chromosome Location	chr5:57010621-57010622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPBP1-7	chr5:57010573-57012349	l_2923_chr5:56982201-57002577_liver

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10447121	0.81[EUR][1000 genomes]
rs10940574	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12514617	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12515493	0.81[EUR][1000 genomes]
rs12517867	0.81[EUR][1000 genomes]
rs12520466	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12522697	0.83[EUR][1000 genomes]
rs12523004	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1544621	0.81[EUR][1000 genomes]
rs17689645	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17689832	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2160057	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2160058	0.81[EUR][1000 genomes]
rs2192367	0.83[EUR][1000 genomes]
rs2192368	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2898027	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58610852	0.80[EUR][1000 genomes]
rs58632739	0.81[EUR][1000 genomes]
rs62358372	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358374	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358380	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62358381	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62361169	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6450432	0.81[EUR][1000 genomes]
rs6450433	0.81[EUR][1000 genomes]
rs6450434	0.81[EUR][1000 genomes]
rs6450435	0.81[EUR][1000 genomes]
rs6870485	0.83[EUR][1000 genomes]
rs6891648	0.81[EUR][1000 genomes]
rs6894116	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72767430	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72767434	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72767441	0.82[EUR][1000 genomes]
rs72767444	0.81[EUR][1000 genomes]
rs741181	0.82[EUR][1000 genomes]
rs7718447	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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57001000-57012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:57006600-57013400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:57007800-57013600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:57008000-57012400	Weak transcription	A549	lung
5	chr5:57009800-57016400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:57009800-57016400	Weak transcription	Aorta	Aorta

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