Variant report

Variant	rs7551789
Chromosome Location	chr1:71514969-71514970
allele	A/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	POLR2A	chr1:71513866-71520382	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
PTGER3	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10889905	0.89[EUR][1000 genomes]
rs11209738	0.92[EUR][1000 genomes]
rs11209745	0.91[ASW][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1138177	0.87[AFR][1000 genomes]
rs11800326	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12040916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12084460	0.91[ASW][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs12747444	0.90[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1431503	0.80[ASN][1000 genomes]
rs1431504	0.83[JPT][hapmap];0.94[YRI][hapmap]
rs2300179	0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2796199	0.91[ASW][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];0.83[YRI][hapmap]
rs2796203	0.93[YRI][hapmap]
rs3765414	0.98[ASN][1000 genomes]
rs4579709	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66461782	0.87[AFR][1000 genomes]
rs7516464	0.83[ASW][hapmap];0.84[LWK][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs7519104	0.83[YRI][hapmap]
rs7522835	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7549846	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs9424959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9425053	0.92[EUR][1000 genomes]
rs9425055	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs952337	0.94[YRI][hapmap]
rs9783035	0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
3	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71513600-71533600	Weak transcription	Lung	lung
2	chr1:71514000-71525000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:71514000-71527400	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:71514000-71530600	Weak transcription	Ovary	ovary
5	chr1:71514000-71533600	Weak transcription	Pancreas	Pancrea
6	chr1:71514000-71533600	Weak transcription	Right Ventricle	heart
7	chr1:71514200-71518000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:71514200-71518800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:71514200-71524200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:71514200-71533600	Weak transcription	Spleen	Spleen
11	chr1:71514400-71515600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:71514400-71515600	Weak transcription	Adipose Nuclei	Adipose
13	chr1:71514400-71517000	Weak transcription	K562	blood
14	chr1:71514400-71524400	Weak transcription	H9 Cell Line	embryonic stem cell

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