Variant report

Variant	rs2179993
Chromosome Location	chr6:45991518-45991519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45987094..45989183-chr6:45990884..45993457,2	K562	blood:
2	chr6:45978565..45981449-chr6:45989773..45991611,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10484840	1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[AMR][1000 genomes]
rs13328271	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1578005	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3777597	1.00[JPT][hapmap]
rs59238881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6906803	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919720	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6921481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6922977	1.00[JPT][hapmap]
rs6927513	1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[AMR][1000 genomes]
rs6936849	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73464404	0.86[AMR][1000 genomes]
rs7771759	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296477	1.00[JPT][hapmap]
rs9463167	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs9463170	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472661	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9472662	0.81[ASW][hapmap];0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9472666	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472667	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9472670	1.00[JPT][hapmap]
rs9472674	1.00[JPT][hapmap];1.00[ASN][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	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2179993	NFKBIE	cis	cerebellum	SCAN
rs2179993	SPATS1	cis	parietal	SCAN
rs2179993	UBR2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45985800-45991800	Weak transcription	Psoas Muscle	Psoas
2	chr6:45989600-45992400	Enhancers	Hela-S3	cervix
3	chr6:45990600-45992400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:45990800-45991800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:45991000-45991600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:45991000-45992400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:45991000-45992400	Enhancers	Liver	Liver
8	chr6:45991000-45992400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:45991200-45992400	Enhancers	Skeletal Muscle Male	skeletal muscle

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