Variant report

Variant	rs4729942
Chromosome Location	chr7:103590285-103590286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103576100..103578480-chr7:103589685..103592644,2	K562	blood:
2	chr7:103590222..103593297-chr7:103593360..103596910,6	K562	blood:
3	chr7:103575744..103578480-chr7:103589685..103593226,3	K562	blood:
4	chr7:103590222..103593239-chr7:103593439..103596929,5	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs10237086	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1123034	0.81[EUR][1000 genomes]
rs4236564	0.96[CEU][hapmap];0.95[CHB][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4236565	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4236566	0.82[EUR][1000 genomes]
rs4259349	0.84[EUR][1000 genomes]
rs4291202	0.81[EUR][1000 genomes]
rs4424197	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs4425676	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs4460305	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs4473962	0.81[EUR][1000 genomes]
rs4475416	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs4483088	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs4621738	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs4636135	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs4727579	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465948	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6950228	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6957898	0.82[EUR][1000 genomes]
rs6966767	0.82[EUR][1000 genomes]
rs6967972	0.81[EUR][1000 genomes]
rs6971036	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs6971140	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs6971418	0.82[EUR][1000 genomes]
rs6976042	0.83[EUR][1000 genomes]
rs7782058	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7785983	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs7787670	0.81[EUR][1000 genomes]
rs7787675	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs9632691	0.82[EUR][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	esv1843940	chr7:103421702-103590285	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4729942	HBP1	cis	cerebellum	SCAN
rs4729942	SERPINE1	cis	parietal	SCAN
rs4729942	LRCH4	cis	parietal	SCAN
rs4729942	PMS2L1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103584800-103596800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:103585400-103596000	Weak transcription	HepG2	liver
3	chr7:103590200-103590600	Enhancers	K562	blood

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