Variant report

Variant	rs57023060
Chromosome Location	chr2:48300975-48300976
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48296844..48298630-chr2:48300277..48302097,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11893417	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11897391	1.00[AMR][1000 genomes]
rs11898242	1.00[AMR][1000 genomes]
rs11899162	1.00[AMR][1000 genomes]
rs11901147	1.00[AMR][1000 genomes]
rs1396827	1.00[AMR][1000 genomes]
rs1483211	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1483212	1.00[AMR][1000 genomes]
rs17037095	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037118	1.00[AMR][1000 genomes]
rs17037121	1.00[AMR][1000 genomes]
rs17037139	1.00[AMR][1000 genomes]
rs17037152	1.00[AMR][1000 genomes]
rs17037198	1.00[AMR][1000 genomes]
rs28702589	1.00[AMR][1000 genomes]
rs2881937	1.00[AMR][1000 genomes]
rs55876292	1.00[AMR][1000 genomes]
rs55877668	1.00[AMR][1000 genomes]
rs56136838	1.00[AMR][1000 genomes]
rs56162077	1.00[AMR][1000 genomes]
rs56244209	1.00[AMR][1000 genomes]
rs57488672	1.00[AMR][1000 genomes]
rs58394027	1.00[AMR][1000 genomes]
rs60806982	1.00[AMR][1000 genomes]
rs61615260	1.00[AMR][1000 genomes]
rs72876865	1.00[AMR][1000 genomes]
rs73927914	1.00[AMR][1000 genomes]
rs73927920	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927925	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927926	1.00[AMR][1000 genomes]
rs73927927	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927928	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927929	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927931	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927934	1.00[AMR][1000 genomes]
rs73927935	1.00[AMR][1000 genomes]
rs73927937	1.00[AMR][1000 genomes]
rs73927938	1.00[AMR][1000 genomes]
rs73927940	1.00[AMR][1000 genomes]
rs73927942	1.00[AMR][1000 genomes]
rs73927945	1.00[AMR][1000 genomes]
rs73927946	1.00[AMR][1000 genomes]
rs73927949	1.00[AMR][1000 genomes]
rs73927950	1.00[AMR][1000 genomes]
rs73927951	1.00[AMR][1000 genomes]
rs73927955	1.00[AMR][1000 genomes]
rs73927956	1.00[AMR][1000 genomes]
rs73927960	1.00[AMR][1000 genomes]
rs73927961	1.00[AMR][1000 genomes]
rs73927962	1.00[AMR][1000 genomes]
rs7568794	1.00[AMR][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	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1000455	chr2:48202161-48362638	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv833969	chr2:48220927-48328328	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv581773	chr2:48277490-48443109	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:48288600-48303800	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:48294800-48309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:48297600-48302400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:48298400-48321400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48300600-48301000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:48300800-48301400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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