Variant report

Variant	rs12096575
Chromosome Location	chr1:184288820-184288821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184288413..184290019-chr1:184291615..184293702,2	K562	blood:
2	chr1:184283540..184285306-chr1:184286972..184289603,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207080	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1024298	0.83[EUR][1000 genomes]
rs1024299	0.83[EUR][1000 genomes]
rs1024300	0.83[EUR][1000 genomes]
rs10911556	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911557	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911560	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059311	0.93[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069709	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074351	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12079075	0.84[EUR][1000 genomes]
rs12079081	0.87[EUR][1000 genomes]
rs12083933	1.00[CHD][hapmap]
rs12117439	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128914	0.81[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs12403673	0.85[EUR][1000 genomes]
rs12726204	1.00[CHD][hapmap]
rs12727053	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727591	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12728309	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12746499	1.00[CHD][hapmap]
rs1318406	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1930291	0.83[EUR][1000 genomes]
rs1930293	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap]
rs2161986	0.83[EUR][1000 genomes]
rs34110117	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34782871	0.95[EUR][1000 genomes]
rs36020636	0.81[EUR][1000 genomes]
rs4263963	0.85[EUR][1000 genomes]
rs4618934	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4622032	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4651196	0.85[EUR][1000 genomes]
rs57757593	0.83[EUR][1000 genomes]
rs6424946	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs66536948	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73059572	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7516012	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7529843	0.83[EUR][1000 genomes]
rs9645302	1.00[GIH][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984419	0.83[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv528772	chr1:184288820-184290515	Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12096575	MFSD6	trans	cerebellum	SCAN
rs12096575	C1orf125	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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