Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:81712042..81713617-chr14:81715610..81718597,2	K562	blood:
2	chr14:81715864..81717635-chr14:81717686..81719523,2	K562	blood:
3	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
4	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000205579	Chromatin interaction

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10131728	1.00[CHB][hapmap]
rs12878339	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12878477	0.85[AMR][1000 genomes]
rs12878503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[TSI][hapmap]
rs12880377	0.92[AMR][1000 genomes]
rs12880414	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12880551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883359	0.92[AMR][1000 genomes]
rs12884270	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888290	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889291	1.00[CHB][hapmap]
rs12891586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12891828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[GIH][hapmap];0.85[MEX][hapmap];0.83[MKK][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes]
rs12892839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12893275	1.00[ASN][1000 genomes]
rs12893436	0.85[AMR][1000 genomes]
rs12894001	0.92[AMR][1000 genomes]
rs12894596	1.00[CHB][hapmap]
rs12895215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12897788	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17630746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[TSI][hapmap]
rs35446669	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4592586	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12892815	NRXN3	cis	parietal	SCAN
rs12892815	TBC1D30	trans	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81711600-81722000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:81714000-81725600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:81714000-81725800	Weak transcription	NHEK	skin
4	chr14:81714200-81725600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:81714200-81726000	Weak transcription	HMEC	breast
6	chr14:81714200-81738600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:81714400-81725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:81714400-81734000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:81714600-81725400	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:81714600-81726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:81714800-81726200	Weak transcription	Placenta	Placenta
12	chr14:81715200-81723000	Weak transcription	Dnd41	blood
13	chr14:81715600-81718600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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