Variant report

Variant	rs73927940
Chromosome Location	chr2:48332998-48332999
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48132095..48134288-chr2:48331229..48334150,2	MCF-7	breast:
2	chr2:48332416..48334392-chr2:48540210..48543027,2	MCF-7	breast:
3	chr2:48084628..48085620-chr2:48332904..48334295,6	MCF-7	breast:
4	chr2:48132762..48136318-chr2:48332374..48334594,3	K562	blood:
5	chr2:48304303..48309230-chr2:48331532..48334851,4	K562	blood:
6	chr2:48331367..48333886-chr2:48667621..48669155,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	Chromatin interaction
ENSG00000170802	Chromatin interaction
ENSG00000272663	Chromatin interaction
ENSG00000233230	Chromatin interaction
ENSG00000162869	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11893417	0.82[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1483212	1.00[AMR][1000 genomes]
rs17037095	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037118	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037121	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037139	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037152	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17037198	1.00[AMR][1000 genomes]
rs28702589	1.00[AMR][1000 genomes]
rs2881937	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55876292	1.00[AMR][1000 genomes]
rs55877668	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56136838	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56162077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56244209	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57023060	1.00[AMR][1000 genomes]
rs57488672	1.00[AMR][1000 genomes]
rs58394027	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60806982	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61615260	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927914	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927920	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927925	1.00[AMR][1000 genomes]
rs73927926	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927927	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927928	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927935	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927937	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927938	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927945	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73927949	0.85[AFR][1000 genomes];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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48328200-48333400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:48330400-48333600	Weak transcription	Ovary	ovary
3	chr2:48332800-48333200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:48332800-48334000	Enhancers	NH-A	brain

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