Variant report

Variant	rs72809518
Chromosome Location	chr5:164512865-164512866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10515888	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10515889	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1345583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363109	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363111	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421683	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1421691	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1421702	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1421708	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421709	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1421711	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1421712	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1421716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1421717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1582420	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17052756	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17072820	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17073151	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2052451	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2112175	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2161105	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287655	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2861092	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2861094	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34368758	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34748983	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4535473	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55940235	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55953354	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57398505	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58015344	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60162408	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61225023	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61649684	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66859522	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6889618	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72808014	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72809516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72809520	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72809532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72809533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72815307	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72815312	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72815314	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72815315	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72815316	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72815317	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72815318	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72815322	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72815324	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72815326	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72815330	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72817557	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72817562	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817565	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817567	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817568	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7728866	0.83[EUR][1000 genomes]
rs969901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976199	0.90[EUR][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	nsv995060	chr5:163660200-164620500	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv528624	chr5:164319435-164701201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1033866	chr5:164419608-164677758	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv883092	chr5:164443094-164529549	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1031772	chr5:164451602-164512911	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:164510400-164514200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:164511800-164513400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:164511800-164513600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:164512000-164513600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:164512000-164515800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:164512400-164513400	Enhancers	Brain Germinal Matrix	brain
7	chr5:164512600-164513000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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