Variant report

Variant	rs4720318
Chromosome Location	chr7:39357025-39357026
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	chr7:39356708..39357326-chr7:39504458..39505136,2	MCF-7	breast:
2	chr7:39351047..39353326-chr7:39354900..39357326,2	K562	blood:

Variant related genes	Relation type
ENSG00000106536	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10447663	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10447664	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12666828	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671242	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34905355	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35354413	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4236357	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4256493	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4338004	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4364548	0.81[CEU][hapmap];0.85[CHB][hapmap];0.86[MEX][hapmap]
rs4628166	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs4720319	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4723851	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4723852	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4723854	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4723855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4723856	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4723857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60467141	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6462902	1.00[CEU][hapmap];0.92[GIH][hapmap];0.97[TSI][hapmap]
rs6462905	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6462907	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462908	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462909	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6951119	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6962816	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6971051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7805623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7806341	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7806608	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015572	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv538821	chr7:39185895-39413053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv887969	chr7:39265429-39391875	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4720318	C7orf36	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39350600-39358400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:39354800-39358800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:39355200-39357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:39355400-39359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:39355800-39358400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:39357000-39361400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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