Variant report

Variant	rs300894
Chromosome Location	chr4:144255998-144255999
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	CEBPB	chr4:144255661-144256269	HepG2	liver:	n/a	chr4:144255756-144255767

No.	Distal block	Cell Line	Cell type
1	chr4:124524644..124527323-chr4:144255705..144257566,2	MCF-7	breast:
2	chr4:144254658..144259448-chr4:144261105..144264742,6	MCF-7	breast:
3	chr4:144254627..144258395-chr4:144297952..144301828,4	K562	blood:
4	chr4:144251943..144253888-chr4:144255920..144257556,2	MCF-7	breast:

Variant related genes	Relation type
GAB1	TF binding region
ENSG00000265623	Chromatin interaction
ENSG00000109458	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10012713	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1027851	0.84[JPT][hapmap]
rs10434185	0.82[CEU][hapmap]
rs11100779	0.82[CEU][hapmap]
rs11100788	0.82[JPT][hapmap]
rs11947952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13123498	0.84[JPT][hapmap]
rs13137565	0.82[CEU][hapmap]
rs1397528	0.85[YRI][hapmap]
rs1472873	0.84[JPT][hapmap]
rs1510880	0.84[JPT][hapmap]
rs2013856	0.92[ASN][1000 genomes]
rs2055730	0.84[JPT][hapmap]
rs300890	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs300891	0.92[ASN][1000 genomes]
rs300892	0.93[ASN][1000 genomes]
rs300893	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs300895	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs300899	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs300901	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300902	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs300903	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs300904	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs300905	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs300910	0.80[ASN][1000 genomes]
rs300911	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs300912	0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs300913	0.95[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300914	0.95[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300915	0.95[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300917	0.95[CEU][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs300918	0.87[ASN][1000 genomes]
rs300919	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs300943	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300946	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs300947	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300949	0.83[EUR][1000 genomes]
rs300951	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs300953	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3792652	0.84[JPT][hapmap]
rs3805247	0.84[JPT][hapmap]
rs3805249	0.83[JPT][hapmap]
rs3805251	0.82[JPT][hapmap]
rs3805253	0.84[JPT][hapmap]
rs3805254	0.84[JPT][hapmap]
rs3805256	0.84[JPT][hapmap]
rs3805257	0.84[JPT][hapmap]
rs3828512	0.84[JPT][hapmap]
rs3828513	0.84[JPT][hapmap]
rs4285045	0.82[CEU][hapmap]
rs476417	0.83[EUR][1000 genomes]
rs568685	0.92[ASN][1000 genomes]
rs592349	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62337488	0.92[ASN][1000 genomes]
rs624170	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs624189	0.92[ASN][1000 genomes]
rs6537155	0.84[JPT][hapmap]
rs666542	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6820340	0.82[CEU][hapmap]
rs713140	0.84[JPT][hapmap]
rs719392	0.84[JPT][hapmap]
rs7435424	0.82[CEU][hapmap]
rs7680959	0.84[JPT][hapmap]
rs7692813	0.82[CEU][hapmap]
rs9996072	0.82[CEU][hapmap]
rs9998017	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv3332574	chr4:144239396-144259577	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144255600-144256600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:144255800-144256000	Enhancers	Fetal Kidney	kidney
3	chr4:144255800-144256000	Enhancers	Ovary	ovary
4	chr4:144255800-144256600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:144255800-144256600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:144255800-144256600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr4:144255800-144256600	Weak transcription	Fetal Muscle Trunk	muscle

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