Variant report

Variant	rs2348531
Chromosome Location	chr6:114086013-114086014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:114079000..114080556-chr6:114084506..114086465,2	K562	blood:
2	chr6:114084994..114086741-chr6:114178527..114180154,2	MCF-7	breast:
3	chr6:114017203..114020038-chr6:114083854..114086336,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155130	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10214595	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1026637	1.00[AMR][1000 genomes]
rs1026638	1.00[AMR][1000 genomes]
rs1026639	1.00[AMR][1000 genomes]
rs1031799	1.00[AMR][1000 genomes]
rs1031802	1.00[AMR][1000 genomes]
rs1462380	1.00[AMR][1000 genomes]
rs1462383	1.00[AMR][1000 genomes]
rs1527506	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1841744	1.00[AMR][1000 genomes]
rs1903679	1.00[AMR][1000 genomes]
rs2018969	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2615509	1.00[AMR][1000 genomes]
rs2615515	1.00[AMR][1000 genomes]
rs2615517	1.00[AMR][1000 genomes]
rs2615520	1.00[AMR][1000 genomes]
rs2615527	1.00[AMR][1000 genomes]
rs2615528	1.00[AMR][1000 genomes]
rs2695453	1.00[AMR][1000 genomes]
rs2753885	1.00[AMR][1000 genomes]
rs2810178	1.00[AMR][1000 genomes]
rs2810181	1.00[AMR][1000 genomes]
rs2810184	1.00[AMR][1000 genomes]
rs2810185	1.00[AMR][1000 genomes]
rs2810186	1.00[AMR][1000 genomes]
rs2810190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810192	1.00[AMR][1000 genomes]
rs2810193	1.00[AMR][1000 genomes]
rs2810194	1.00[AMR][1000 genomes]
rs2810197	1.00[AMR][1000 genomes]
rs352069	1.00[AMR][1000 genomes]
rs352072	1.00[AMR][1000 genomes]
rs352076	1.00[AMR][1000 genomes]
rs352088	1.00[AMR][1000 genomes]
rs352089	1.00[AMR][1000 genomes]
rs476354	1.00[AMR][1000 genomes]
rs508935	1.00[AMR][1000 genomes]
rs569246	1.00[AMR][1000 genomes]
rs574054	1.00[AMR][1000 genomes]
rs612475	1.00[AMR][1000 genomes]
rs6568808	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9372378	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9481397	1.00[AMR][1000 genomes]
rs9481399	1.00[AMR][1000 genomes]
rs9481401	1.00[AMR][1000 genomes]
rs9488261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9488287	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv464023	chr6:114071720-114114057	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv604532	chr6:114071720-114114057	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114084200-114095800	Weak transcription	Fetal Lung	lung
2	chr6:114085400-114098000	Weak transcription	Stomach Mucosa	stomach
3	chr6:114085600-114088000	Enhancers	Primary neutrophils fromperipheralblood	blood

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