Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:7249175..7252051-chr2:7257461..7260179,2	K562	blood:
2	chr2:7248479..7250101-chr2:7259686..7262238,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10182281	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10209265	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs13390346	0.88[EUR][1000 genomes]
rs13392260	0.87[EUR][1000 genomes]
rs13432467	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1377379	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1453120	0.85[EUR][1000 genomes]
rs1453121	0.85[EUR][1000 genomes]
rs1901765	0.85[EUR][1000 genomes]
rs2352399	0.88[EUR][1000 genomes]
rs2882922	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4668518	0.87[EUR][1000 genomes]
rs4668519	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4668521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6431846	0.88[EUR][1000 genomes]
rs6431847	0.88[EUR][1000 genomes]
rs6431848	0.88[EUR][1000 genomes]
rs6712003	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6725043	0.80[EUR][1000 genomes]
rs6745416	0.85[EUR][1000 genomes]
rs7607017	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9287679	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9287680	0.92[CEU][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs9287681	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs9287682	0.92[CEU][hapmap];0.83[CHB][hapmap];0.85[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	nsv915888	chr2:7197783-7461967	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1843872	chr2:7242128-7256644	Enhancers Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv1849765	chr2:7244036-7267069	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6730204	RAB40B	trans	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7234800-7249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:7237800-7249400	Weak transcription	Fetal Kidney	kidney
3	chr2:7238000-7249400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:7238000-7252000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:7238000-7259000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:7238000-7259600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:7238000-7260400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:7238200-7249600	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:7238200-7258800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:7245600-7253400	Weak transcription	Dnd41	blood
11	chr2:7246600-7266400	Weak transcription	Primary T cells from cord blood	blood

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