Variant report

Variant	rs7573275
Chromosome Location	chr2:73552542-73552543
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	chr2:73550358..73552721-chr2:73600201..73602328,2	MCF-7	breast:
2	chr2:73549712..73552707-chr2:73560204..73562856,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10165862	0.85[CEU][hapmap]
rs10175529	0.84[ASN][1000 genomes]
rs10206188	0.90[ASN][1000 genomes]
rs1083922	0.91[CHD][hapmap]
rs10865398	0.91[CHD][hapmap]
rs11126395	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11126396	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11126399	0.85[CEU][hapmap]
rs11693531	0.83[ASN][1000 genomes]
rs11898362	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12465867	0.85[CEU][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.81[MEX][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs1403412	0.95[CEU][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.83[ASN][1000 genomes]
rs1406105	0.81[CHD][hapmap]
rs1522926	0.84[ASN][1000 genomes]
rs1851546	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1852644	0.83[ASN][1000 genomes]
rs2037814	0.82[CHD][hapmap]
rs2091022	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421489	0.95[CEU][hapmap];0.83[CHB][hapmap];0.88[JPT][hapmap]
rs2901437	0.83[ASN][1000 genomes]
rs35885918	0.83[ASN][1000 genomes]
rs3820700	0.87[CHD][hapmap]
rs6546824	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6546826	0.95[CEU][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs6546827	0.83[CEU][hapmap];0.81[ASN][1000 genomes]
rs6546829	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs6706235	0.85[CEU][hapmap];0.83[ASN][1000 genomes]
rs6706409	0.85[CEU][hapmap];0.94[CHD][hapmap];0.82[TSI][hapmap];0.81[ASN][1000 genomes]
rs6710659	0.85[CEU][hapmap];0.84[ASN][1000 genomes]
rs6716776	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6728128	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6747145	0.85[CEU][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs6748040	0.85[CEU][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs6749680	0.91[CHD][hapmap]
rs7560272	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7567017	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7567343	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7574291	0.95[CEU][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap]
rs7576824	0.85[CEU][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.83[ASN][1000 genomes]
rs7598901	0.85[CHD][hapmap]
rs7604588	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs780390	0.87[CHD][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013190	chr2:73489679-73572643	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs7573275	EXOC6B	cis	cerebellum	SCAN
rs7573275	TLX2	cis	cerebellum	SCAN
rs7573275	ALMS1	cis	Whole Blood	GTEx
rs7573275	ALMS1P	cis	cerebellum	SCAN
rs7573275	MPHOSPH10	cis	cerebellum	SCAN
rs7573275	ALMS1P	cis	Skin Sun Exposed Lower leg	GTEx
rs7573275	LRRTM4	cis	cerebellum	SCAN
rs7573275	ALMS1P	cis	parietal	SCAN
rs7573275	ALMS1	cis	cerebellum	SCAN
rs7573275	ALMS1	cis	parietal	SCAN
rs7573275	ALMS1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73550600-73552600	Enhancers	Fetal Brain Male	brain
2	chr2:73552200-73552600	Enhancers	Fetal Brain Female	brain

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