Variant report

Variant	rs11265280
Chromosome Location	chr1:159765929-159765930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:159764849..159767103-chr1:159869653..159871560,2	K562	blood:
2	chr1:159756652..159760361-chr1:159765566..159768582,3	K562	blood:
3	chr1:159765477..159767886-chr1:159894615..159896169,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158710	Chromatin interaction
ENSG00000213085	Chromatin interaction
ENSG00000266458	Chromatin interaction

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

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

rs_ID	r²[population]
rs11265282	1.00[CEU][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11585836	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11590961	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12083967	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12090961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4301626	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4443889	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4656851	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55650803	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57198275	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58024147	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58240276	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59414252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656168	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6656979	0.93[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6657365	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6659704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6672434	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6692290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7512164	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519854	0.89[GIH][hapmap]
rs7527418	0.85[CEU][hapmap]

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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11265280	FCRL6	cis	multi-tissue	Pritchard
rs11265280	COPA	cis	cerebellum	SCAN
rs11265280	OLFML2B	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159765600-159766000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:159765600-159770000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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