Variant report

Variant	rs7512091
Chromosome Location	chr1:209753248-209753249
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209751059..209753558-chr1:209865258..209867656,2	K562	blood:
2	chr1:209751620..209753341-chr1:209777265..209778868,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10489338	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs11119309	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs12058586	0.85[CHB][hapmap]
rs12084657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17014744	0.82[EUR][1000 genomes]
rs17014768	0.85[CEU][hapmap];0.97[TSI][hapmap];0.89[EUR][1000 genomes]
rs17014769	0.89[EUR][1000 genomes]
rs17014799	0.83[ASN][1000 genomes]
rs17014808	0.83[ASN][1000 genomes]
rs17014810	0.90[CEU][hapmap];0.83[GIH][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17014820	0.84[ASW][hapmap];0.90[CEU][hapmap];0.81[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]
rs17014822	0.93[EUR][1000 genomes]
rs17014823	0.93[EUR][1000 genomes]
rs17014830	0.92[ASW][hapmap];0.90[CEU][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.92[EUR][1000 genomes]
rs17014836	0.90[CEU][hapmap];0.89[YRI][hapmap];0.91[EUR][1000 genomes]
rs17388107	0.90[EUR][1000 genomes]
rs2067744	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688212	0.84[EUR][1000 genomes]
rs55709381	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs55967608	0.93[EUR][1000 genomes]
rs56025154	0.84[EUR][1000 genomes]
rs56165413	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs58987909	0.87[EUR][1000 genomes]
rs60686175	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61819949	0.85[EUR][1000 genomes]
rs61822168	0.87[EUR][1000 genomes]
rs61822169	0.90[EUR][1000 genomes]
rs61822171	0.93[EUR][1000 genomes]
rs61822172	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6540543	0.91[EUR][1000 genomes]
rs6663545	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669549	0.91[EUR][1000 genomes]
rs6690557	0.80[CHB][hapmap]
rs6695896	0.80[JPT][hapmap]
rs6698127	0.85[EUR][1000 genomes]
rs742253	0.84[ASW][hapmap];0.90[CEU][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.91[EUR][1000 genomes]
rs7516885	0.90[CEU][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs7536585	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs9429821	0.80[CHB][hapmap]
rs9430000	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs9430001	0.80[CHB][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7512091	G0S2	cis	cerebellum	SCAN
rs7512091	PIGR	cis	cerebellum	SCAN
rs7512091	TMCC2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209750800-209753800	Weak transcription	Osteobl	bone
2	chr1:209751000-209756200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:209751000-209756400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:209751000-209756600	Weak transcription	NHLF	lung
5	chr1:209751000-209758600	Weak transcription	HMEC	breast
6	chr1:209751200-209753400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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