Variant report

Variant	rs12540614
Chromosome Location	chr7:103633849-103633850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:103633807-103633857	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103632576..103634948-chr7:103642907..103645335,2	K562	blood:
2	chr7:103632737..103634639-chr7:103635912..103638450,2	MCF-7	breast:

Variant related genes	Relation type
RELN	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10237086	0.81[CEU][hapmap]
rs12111672	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12113013	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13241016	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34721336	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34738779	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35252264	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35252328	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4291202	0.80[EUR][1000 genomes]
rs4298437	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[MEX][hapmap]
rs4305831	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4425676	0.81[CEU][hapmap]
rs4475416	0.81[CEU][hapmap]
rs4483088	0.81[CEU][hapmap]
rs4489256	1.00[CHB][hapmap]
rs4621738	0.81[CEU][hapmap]
rs4636135	0.81[CEU][hapmap]
rs4727584	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57049078	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60769146	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62488860	0.96[EUR][1000 genomes]
rs6465948	0.80[CEU][hapmap]
rs6465951	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6465952	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67196278	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949973	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955789	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6961175	0.94[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6965639	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6966127	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6967863	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971036	0.81[CEU][hapmap]
rs6971140	0.81[CEU][hapmap]
rs6972426	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975845	0.92[CEU][hapmap];0.85[CHB][hapmap];0.91[EUR][1000 genomes]
rs7782058	0.80[CEU][hapmap]
rs7785983	0.81[CEU][hapmap]
rs7787675	0.81[CEU][hapmap]
rs7800855	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12540614	SERPINE1	cis	parietal	SCAN
rs12540614	LRCH4	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103631600-103636200	Enhancers	K562	blood
2	chr7:103633800-103634400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:103633800-103634400	Bivalent Enhancer	HUVEC	blood vessel
4	chr7:103633800-103634800	Enhancers	HepG2	liver

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