Variant report

Variant	rs9991381
Chromosome Location	chr4:158903391-158903392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:158903375..158906273-chr4:158910414..158912767,2	MCF-7	breast:
2	chr4:158898404..158900023-chr4:158901813..158904449,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10003459	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs10005901	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10027000	0.88[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10049927	0.92[CEU][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13137826	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28635553	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4072169	0.80[ASN][1000 genomes]
rs4072170	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077776	0.92[CEU][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4077777	0.81[EUR][1000 genomes]
rs4388135	0.81[CEU][hapmap]
rs4487405	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4504305	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521391	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4574459	0.96[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4615226	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4631100	0.96[CEU][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4691447	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6536298	0.83[TSI][hapmap]
rs66490968	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6814979	0.84[CEU][hapmap];0.83[GIH][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap]
rs6833295	0.81[CEU][hapmap]
rs6843728	0.88[CEU][hapmap];0.95[TSI][hapmap]
rs6847800	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6848159	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7657303	0.92[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7673290	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7682867	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7692254	0.83[MEX][hapmap];0.86[TSI][hapmap]
rs9968557	0.84[CEU][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]

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	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9991381	DKFZp434L142	cis	multi-tissue	Pritchard
rs9991381	FAM198B	cis	Whole Blood	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158900000-158904400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:158900200-158903800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:158900400-158903400	Weak transcription	HUVEC	blood vessel
4	chr4:158900400-158903800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:158901600-158903800	Weak transcription	Aorta	Aorta

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