Variant report

Variant	rs9944085
Chromosome Location	chr14:81717620-81717621
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr14:81712017..81715748-chr14:81716669..81719920,4	MCF-7	breast:
5	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205579	Chromatin interaction
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10133562	0.87[CHB][hapmap];0.89[CHD][hapmap]
rs1035948	0.84[CHD][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap]
rs11159493	0.82[CHB][hapmap]
rs11159494	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap]
rs11621116	0.82[CHB][hapmap]
rs11622105	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625861	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1864167	0.82[CHD][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap]
rs1885601	0.82[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap]
rs1951614	0.89[ASW][hapmap];0.81[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs1957549	0.82[AFR][1000 genomes]
rs1991516	0.81[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2241621	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap];0.83[EUR][1000 genomes]
rs2241622	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs2288499	0.89[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs2371570	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2371571	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815953	0.89[ASW][hapmap];0.81[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs55643303	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55742437	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55822231	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56714548	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56835982	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61978870	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6574631	0.89[ASW][hapmap];0.81[CEU][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs7141288	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148483	0.81[CHB][hapmap]
rs7160342	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7160569	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72695758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759939	0.81[CEU][hapmap]
rs8007841	0.82[CHB][hapmap]
rs8008870	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8009519	0.82[AFR][1000 genomes]
rs8015423	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8019108	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9323698	0.91[CHB][hapmap]
rs9806027	0.91[CEU][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9944085	STON2	cis	parietal	SCAN

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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