Variant report

Variant	rs7701925
Chromosome Location	chr5:74625512-74625513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:74624109..74627608-chr5:74630494..74633773,3	K562	blood:
2	chr5:74623256..74625820-chr5:74629134..74632022,2	K562	blood:
3	chr5:74624687..74627329-chr5:74632188..74633774,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000247372	Chromatin interaction
ENSG00000113161	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10038723	0.82[ASN][1000 genomes]
rs10053643	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10462517	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10473972	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10474433	0.92[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs10474434	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12234032	0.84[EUR][1000 genomes]
rs13358429	0.83[ASN][1000 genomes]
rs17238484	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17671591	0.83[ASN][1000 genomes]
rs28609217	0.82[ASN][1000 genomes]
rs2878418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28851300	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3761742	1.00[CEU][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.90[TSI][hapmap];0.84[EUR][1000 genomes]
rs3761743	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3846665	1.00[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs3846666	0.82[ASN][1000 genomes]
rs3931914	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4703670	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4704214	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4704224	0.82[ASN][1000 genomes]
rs5744533	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs5744555	1.00[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap]
rs6453134	0.82[ASN][1000 genomes]
rs698912	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7356637	0.85[CEU][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap]
rs7700468	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7709282	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs7732854	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737959	0.83[ASN][1000 genomes]
rs9885386	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7701925	HMGCR	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74617200-74626000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:74619000-74631400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:74619400-74632200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:74621000-74632200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:74621600-74631200	Weak transcription	A549	lung
6	chr5:74621800-74627000	Weak transcription	Liver	Liver
7	chr5:74625000-74626000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:74625200-74625800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:74625400-74625800	Weak transcription	HepG2	liver

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