Variant report

Variant	rs2912633
Chromosome Location	chr6:48583348-48583349
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1109369	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12523746	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12665437	0.81[ASN][1000 genomes]
rs1578415	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1578845	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1578846	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2052795	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2052796	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2052797	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2052798	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2052799	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2069327	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2162458	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249273	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2396873	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs243117	0.81[ASN][1000 genomes]
rs243118	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs243125	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs243132	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2495934	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2912621	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2996246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2996247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2996252	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3010506	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3010521	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3010528	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4314489	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4711914	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4715089	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6458619	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6458621	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6458622	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6911205	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6917880	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6927467	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6939539	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7738659	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7770148	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7770193	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7773049	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9296600	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9296601	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9349453	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9381673	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9395377	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9395378	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9395380	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9395386	0.85[ASN][1000 genomes]
rs9473428	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9473431	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9473432	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv603035	chr6:47902243-48700995	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885877	chr6:48117685-48626930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv462942	chr6:48480264-48598199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv885878	chr6:48481466-48623408	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv830658	chr6:48497904-48632523	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2752125	chr6:48575963-48718589	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48582800-48583400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:48583000-48583800	Enhancers	Osteobl	bone

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