Variant report

Variant	rs751547
Chromosome Location	chr11:102468917-102468918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102460887..102463879-chr11:102468746..102470729,3	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1317947	0.85[CEU][hapmap];0.87[YRI][hapmap]
rs1615443	0.82[ASN][1000 genomes]
rs1631411	0.92[CEU][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711403	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1711410	0.85[CEU][hapmap];0.91[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs1711411	0.85[CEU][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs1711412	0.85[EUR][1000 genomes]
rs1711413	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1711414	0.82[EUR][1000 genomes]
rs1711416	0.86[EUR][1000 genomes]
rs1711417	0.86[EUR][1000 genomes]
rs1711418	0.92[CEU][hapmap];0.87[YRI][hapmap];0.89[EUR][1000 genomes]
rs1711420	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711421	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711422	0.92[CEU][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711423	0.92[CEU][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711425	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711426	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711427	0.92[CEU][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1711429	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1711430	0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1711432	0.86[ASN][1000 genomes]
rs1711437	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711439	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1784408	0.86[LWK][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs1784410	0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1784417	0.81[EUR][1000 genomes]
rs1784418	0.85[CEU][hapmap];0.91[GIH][hapmap];0.87[TSI][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs1784421	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs1784422	0.92[CEU][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1784423	0.92[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1784424	0.92[CEU][hapmap];0.89[GIH][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap];0.91[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1784425	0.89[CEU][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.83[YRI][hapmap];0.84[EUR][1000 genomes]
rs1784426	0.92[CEU][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1784427	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1784431	0.82[CHB][hapmap];0.98[CHD][hapmap];0.84[ASN][1000 genomes]
rs1784432	0.85[ASN][1000 genomes]
rs1784433	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1784434	0.86[ASN][1000 genomes]
rs1784435	0.86[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1784436	0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs1784437	0.86[ASN][1000 genomes]
rs1784438	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs1784451	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2509018	0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs2509020	0.81[EUR][1000 genomes]
rs2701961	0.97[ASN][1000 genomes]
rs2846366	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2846369	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4285839	0.81[EUR][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	esv1815657	chr11:102413582-102490794	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832252	chr11:102445479-102627879	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs751547	hCT2325258	trans	multi-tissue	Pritchard
rs751547	ITGB7	trans	multi-tissue	Pritchard
rs751547	hCT29609.2	trans	multi-tissue	Pritchard
rs751547	BIRC2	cis	cerebellum	SCAN
rs751547	XM_061997	cis	multi-tissue	Pritchard
rs751547	RPS2P55	cis	Liver	GTEx
rs751547	ITGB7	cis	Liver	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102462200-102470000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:102463800-102469200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:102464000-102469200	Weak transcription	NHEK	skin
4	chr11:102464000-102470800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:102464200-102469000	Weak transcription	HMEC	breast
6	chr11:102466000-102470600	Weak transcription	Small Intestine	intestine
7	chr11:102466800-102474200	Enhancers	HepG2	liver
8	chr11:102467200-102470000	Enhancers	A549	lung
9	chr11:102467600-102470800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:102467800-102469200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:102468000-102469200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:102468000-102470200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:102468200-102469400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:102468600-102469000	Weak transcription	Fetal Intestine Large	intestine
15	chr11:102468800-102470200	Enhancers	HUVEC	blood vessel

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