Variant report

Variant	rs60220631
Chromosome Location	chr2:51860042-51860043
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13407692	1.00[AMR][1000 genomes]
rs28958293	1.00[AMR][1000 genomes]
rs28958306	1.00[AMR][1000 genomes]
rs28960973	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28961327	1.00[AMR][1000 genomes]
rs28961333	1.00[AMR][1000 genomes]
rs28961337	1.00[AMR][1000 genomes]
rs28961345	1.00[AMR][1000 genomes]
rs28961347	1.00[AMR][1000 genomes]
rs28961572	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28961575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28961577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28961579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28961581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28961630	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28962186	1.00[AMR][1000 genomes]
rs28962494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28965172	1.00[AMR][1000 genomes]
rs28965177	1.00[AMR][1000 genomes]
rs28965182	1.00[AMR][1000 genomes]
rs28965183	1.00[AMR][1000 genomes]
rs28965204	1.00[AMR][1000 genomes]
rs28965225	1.00[AMR][1000 genomes]
rs28965226	1.00[AMR][1000 genomes]
rs28966695	1.00[AMR][1000 genomes]
rs28967885	1.00[AMR][1000 genomes]
rs28967886	1.00[AMR][1000 genomes]
rs28967895	1.00[AMR][1000 genomes]
rs58563007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59847308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60201129	1.00[AMR][1000 genomes]
rs61231108	1.00[AMR][1000 genomes]
rs72875175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72875179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72876623	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72878652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72878656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72878666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72878667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72878781	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72878791	1.00[AMR][1000 genomes]
rs72878801	1.00[AMR][1000 genomes]
rs72880321	1.00[AMR][1000 genomes]
rs72880322	1.00[AMR][1000 genomes]
rs72880326	1.00[AMR][1000 genomes]
rs72880329	1.00[AMR][1000 genomes]
rs72880333	1.00[AMR][1000 genomes]
rs72880337	1.00[AMR][1000 genomes]
rs72886399	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888207	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888220	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888301	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73930769	1.00[AMR][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	nsv1001552	chr2:51225970-52139741	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv535708	chr2:51225970-52139741	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv874069	chr2:51723107-52006583	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1011738	chr2:51731251-51976068	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv581881	chr2:51735494-51862691	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51859600-51862000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:51859800-51861000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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