Variant report

Variant	rs2068923
Chromosome Location	chr5:112655413-112655414
allele	A/G
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	MYC	chr5:112655373-112655639	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr5:112655364-112655669	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr5:112655366-112655566	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr5:112655348-112655704	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr5:112655378-112655597	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:112655373-112655657	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr5:112655335-112655608	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr5:112655367-112655669	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000232633	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10042223	0.80[YRI][hapmap]
rs10051834	0.83[YRI][hapmap]
rs10074214	0.80[YRI][hapmap]
rs10077020	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10428666	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10519343	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs10519346	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs10900685	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs1116547	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11241197	0.89[AMR][1000 genomes]
rs11241201	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.84[YRI][hapmap];0.86[ASN][1000 genomes]
rs11241206	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[YRI][hapmap];0.86[ASN][1000 genomes]
rs11738075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11738215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs11740353	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs11741794	0.85[AMR][1000 genomes]
rs11741937	0.88[AMR][1000 genomes]
rs11746532	0.80[AMR][1000 genomes]
rs11748465	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes]
rs11748503	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11748524	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes]
rs11749864	0.81[AMR][1000 genomes]
rs12188069	1.00[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap]
rs12514091	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12516418	0.86[JPT][hapmap];0.83[YRI][hapmap]
rs12519753	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12520003	1.00[CHB][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12521391	1.00[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap]
rs12522862	1.00[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap]
rs12523027	0.89[AMR][1000 genomes]
rs12523255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs12523284	0.85[AMR][1000 genomes]
rs13188946	0.80[YRI][hapmap]
rs13360719	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1366393	0.80[YRI][hapmap]
rs1443683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517209	0.86[ASN][1000 genomes]
rs1586943	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17135454	1.00[GIH][hapmap]
rs17135463	1.00[GIH][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap]
rs17135515	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs17135526	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes]
rs17135531	0.80[AMR][1000 genomes]
rs17135534	0.90[MEX][hapmap]
rs17135546	0.83[AMR][1000 genomes]
rs17135597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17135608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs17135616	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17135630	0.86[JPT][hapmap]
rs1833678	1.00[JPT][hapmap]
rs1838208	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845289	0.80[AMR][1000 genomes]
rs1850407	0.80[YRI][hapmap]
rs1850410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1850412	0.80[YRI][hapmap]
rs1997521	0.95[MEX][hapmap]
rs2222144	0.80[YRI][hapmap]
rs26959	0.83[YRI][hapmap]
rs26961	0.83[YRI][hapmap]
rs26966	0.83[YRI][hapmap]
rs27567	0.84[YRI][hapmap]
rs3846721	0.84[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs3846722	0.88[JPT][hapmap]
rs4331889	0.84[YRI][hapmap]
rs4705551	0.88[JPT][hapmap]
rs4705814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4705818	0.84[ASN][1000 genomes]
rs4705819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs62374372	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6594701	0.91[YRI][hapmap]
rs6594703	0.85[YRI][hapmap]
rs6594704	0.84[YRI][hapmap]
rs6594705	0.84[YRI][hapmap]
rs6594710	0.80[YRI][hapmap]
rs6594712	0.80[YRI][hapmap]
rs66728961	0.86[ASN][1000 genomes]
rs67764628	0.82[ASN][1000 genomes]
rs6864528	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.84[YRI][hapmap];0.84[ASN][1000 genomes]
rs6867397	0.80[YRI][hapmap]
rs6877524	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];0.85[TSI][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878001	0.88[JPT][hapmap]
rs6879800	0.88[JPT][hapmap];0.85[MEX][hapmap]
rs6883441	0.88[JPT][hapmap]
rs6887565	0.95[MEX][hapmap]
rs73236478	0.84[ASN][1000 genomes]
rs73246629	0.83[AMR][1000 genomes]
rs73246681	0.85[AMR][1000 genomes]
rs7707443	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7708084	0.81[YRI][hapmap]
rs7717000	0.88[JPT][hapmap]
rs7717422	0.80[YRI][hapmap]
rs7725589	0.83[YRI][hapmap]
rs9326887	0.80[YRI][hapmap]
rs957777	1.00[JPT][hapmap]
rs971370	0.90[MEX][hapmap]
rs971371	0.90[MEX][hapmap]
rs977997	0.90[MEX][hapmap]
rs9800316	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1018078	chr5:112615220-112657404	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
3	chr5:112655000-112657600	Enhancers	Liver	Liver
4	chr5:112655200-112655800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:112655200-112656000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:112655200-112656200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112655200-112656400	Enhancers	Stomach Mucosa	stomach
8	chr5:112655400-112655600	Enhancers	Placenta	Placenta
9	chr5:112655400-112656000	Enhancers	HMEC	breast
10	chr5:112655400-112657400	Enhancers	Primary hematopoietic stem cells	blood

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