Variant report

Variant	rs13105648
Chromosome Location	chr4:48464393-48464394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48461047..48463475-chr4:48463503..48465946,2	MCF-7	breast:
2	chr4:48462803..48464644-chr4:48465855..48467881,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10517218	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10805169	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13101954	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs13102023	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13110633	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13114836	0.81[EUR][1000 genomes]
rs13139251	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13139533	0.89[EUR][1000 genomes]
rs13142082	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.80[ASN][1000 genomes]
rs13145713	0.82[EUR][1000 genomes]
rs1565217	0.80[EUR][1000 genomes]
rs17472127	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs2029347	0.80[ASN][1000 genomes]
rs2291476	0.80[ASN][1000 genomes]
rs28840724	0.80[ASN][1000 genomes]
rs34239305	0.80[ASN][1000 genomes]
rs34380340	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34386102	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34922671	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35079648	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35963236	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3811759	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs3943122	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.80[ASN][1000 genomes]
rs409911	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap]
rs62311260	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6447639	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6819847	0.83[ASN][1000 genomes]
rs6821909	0.81[EUR][1000 genomes]
rs6824075	0.90[EUR][1000 genomes]
rs6824125	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs6844692	0.80[EUR][1000 genomes]
rs6845250	0.90[EUR][1000 genomes]
rs6847622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246023	0.83[ASN][1000 genomes]
rs745761	0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs7670045	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7676578	0.89[EUR][1000 genomes]
rs7698564	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1005268	chr4:48444307-48484389	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537086	chr4:48444307-48484389	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13105648	YIPF7	cis	parietal	SCAN
rs13105648	GABRG1	cis	cerebellum	SCAN
rs13105648	OCIAD2	cis	cerebellum	SCAN
rs13105648	SLC10A4	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48464000-48464400	Weak transcription	Duodenum Mucosa	Duodenum

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