Variant report

Variant	rs7160569
Chromosome Location	chr14:81713686-81713687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr14:81713662-81714065	MCF-7	breast:	n/a	n/a
2	TFAP2C	chr14:81713229-81713988	Hela-S3	cervix:	n/a	chr14:81713589-81713604
3	NR2F2	chr14:81713314-81714240	MCF-7	breast:	n/a	n/a
4	CTCF	chr14:81713680-81713830	MCF-7	breast:	n/a	n/a
5	TFAP2A	chr14:81713144-81713847	Hela-S3	cervix:	n/a	chr14:81713587-81713602
6	MAX	chr14:81713334-81714298	MCF-7	breast:	n/a	n/a
7	SIN3AK20	chr14:81713032-81714507	MCF-7	breast:	n/a	n/a
8	FOS	chr14:81713546-81713711	MCF10A-Er-Src	breast:	n/a	n/a
9	GATA3	chr14:81712909-81714214	MCF-7	breast:	n/a	n/a
10	MAFK	chr14:81713517-81713805	HepG2	liver:	n/a	chr14:81713656-81713671
11	CTCF	chr14:81713560-81713710	NHDF-neo	bronchial:	n/a	n/a
12	MAFK	chr14:81713515-81713782	HepG2	liver:	n/a	chr14:81713656-81713671
13	ZNF217	chr14:81713591-81714262	MCF-7	breast:	n/a	n/a
14	HDAC2	chr14:81713326-81714322	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:81685898..81688626-chr14:81711867..81715225,3	K562	blood:
2	chr14:81683519..81693455-chr14:81706363..81723125,33	MCF-7	breast:
3	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:

Variant related genes	Relation type
DYNLL1P1	TF binding region
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11159494	0.82[CEU][hapmap]
rs11622105	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11625861	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372876	0.80[JPT][hapmap]
rs1885601	0.81[CEU][hapmap]
rs1951614	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs1957549	0.82[AFR][1000 genomes]
rs1991516	0.82[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs2241621	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2288499	0.88[CEU][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3815953	0.85[CEU][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];1.00[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	0.85[CEU][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	0.86[CHB][hapmap]
rs7160342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7160599	0.91[CHB][hapmap];0.80[ASN][1000 genomes]
rs7161073	0.83[CHB][hapmap]
rs72695758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs759939	0.82[CEU][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[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][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	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806027	0.87[CEU][hapmap]
rs9944085	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]

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

No data

Chromatin state (count:22 , 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	chr14:81711800-81714600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:81712000-81714200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:81712000-81714400	Enhancers	NHDF-Ad	bronchial
5	chr14:81712200-81714400	Enhancers	Fetal Muscle Trunk	muscle
6	chr14:81712400-81714200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:81712600-81714200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr14:81712600-81714200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:81712600-81714600	Flanking Active TSS	HSMM	muscle
10	chr14:81712800-81714200	Enhancers	HMEC	breast
11	chr14:81712800-81714600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:81712800-81714600	Enhancers	Fetal Muscle Leg	muscle
13	chr14:81712800-81714800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:81712800-81714800	Enhancers	HSMMtube	muscle
15	chr14:81713000-81714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:81713000-81714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:81713200-81714000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:81713200-81714000	Enhancers	NHEK	skin
19	chr14:81713400-81714600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr14:81713400-81714800	Enhancers	Placenta	Placenta
21	chr14:81713600-81714600	Enhancers	Pancreas	Pancrea
22	chr14:81713600-81715200	Enhancers	Dnd41	blood

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