Variant report

Variant	rs12549630
Chromosome Location	chr8:91242179-91242180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90995721..90998156-chr8:91242084..91244807,2	K562	blood:
2	chr8:91242047..91244608-chr8:91257106..91259132,2	K562	blood:
3	chr8:91094674..91097076-chr8:91241474..91243538,2	K562	blood:
4	chr8:91240676..91242950-chr8:91249101..91250668,2	MCF-7	breast:
5	chr8:90995448..90997221-chr8:91241711..91243584,2	K562	blood:
6	chr8:90913953..90916622-chr8:91239898..91242343,2	K562	blood:
7	chr8:91196894..91200069-chr8:91240130..91243292,3	K562	blood:

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104327	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10108327	0.85[AMR][1000 genomes]
rs12056604	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12544366	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12545140	0.88[AMR][1000 genomes]
rs12546302	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547394	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12549515	0.82[AMR][1000 genomes]
rs12549660	0.90[AMR][1000 genomes]
rs12549875	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12550324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16904149	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2189257	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2285725	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735301	0.85[AMR][1000 genomes]
rs59497517	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470808	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67422313	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7016389	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72606643	0.91[EUR][1000 genomes]
rs72606646	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72606647	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72606648	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72606649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72606650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72606651	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72606652	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72606653	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72606654	0.91[EUR][1000 genomes]
rs72606655	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72606656	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72606657	0.87[AMR][1000 genomes]
rs7824654	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7826142	0.91[EUR][1000 genomes]
rs970473	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr8:91240200-91244200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:91240600-91244800	Enhancers	Hela-S3	cervix
3	chr8:91241200-91243400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:91241400-91243400	Weak transcription	HMEC	breast
5	chr8:91241400-91243400	Weak transcription	NHEK	skin
6	chr8:91242000-91242800	Enhancers	K562	blood

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