Variant report

Variant	rs1325533
Chromosome Location	chr14:37226055-37226056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37223484..37226106-chr17:12264247..12267182,2	K562	blood:
2	chr14:37225583..37228610-chr14:37234821..37238583,4	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10134198	0.97[ASN][1000 genomes]
rs10134532	0.97[ASN][1000 genomes]
rs10134535	0.97[ASN][1000 genomes]
rs1325534	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1325535	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs1325537	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs1739611	0.97[ASN][1000 genomes]
rs1739613	0.97[ASN][1000 genomes]
rs1749926	0.97[ASN][1000 genomes]
rs1749927	0.93[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs1749928	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs1749929	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs1749944	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs1749945	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.98[ASN][1000 genomes]
rs1853812	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs2764953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs2764954	0.97[ASN][1000 genomes]
rs2774037	0.97[ASN][1000 genomes]
rs2774038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs2774039	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[ASN][1000 genomes]
rs712324	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs712328	0.93[CHB][hapmap];0.84[CHD][hapmap];0.80[YRI][hapmap]
rs712333	1.00[CHB][hapmap]
rs73264788	0.97[ASN][1000 genomes]
rs848090	1.00[CHB][hapmap];0.81[YRI][hapmap]
rs848093	0.88[CHD][hapmap]
rs848094	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs848096	1.00[CHB][hapmap]
rs848098	1.00[CHB][hapmap]
rs848099	1.00[CHB][hapmap]
rs848108	1.00[CHB][hapmap];0.92[CHD][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.82[ASN][1000 genomes]
rs848109	0.82[ASN][1000 genomes]
rs848110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[ASN][1000 genomes]
rs848111	1.00[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs848113	1.00[CHB][hapmap]
rs848116	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs848119	1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[YRI][hapmap]
rs848122	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3333030	chr14:37224823-37226696	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1325533	RP11-81F13.2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37217400-37234200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:37225800-37234000	Weak transcription	Esophagus	oesophagus

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