Variant report

Variant	rs10487071
Chromosome Location	chr7:86737582-86737583
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	chr7:86737495-86738061	K562	blood:	n/a	chr7:86737886-86737899
2	RCOR1	chr7:86736396-86738215	K562	blood:	n/a	n/a
3	CBX3	chr7:86737272-86738232	K562	blood:	n/a	n/a
4	BHLHE40	chr7:86737353-86738057	K562	blood:	n/a	n/a
5	SMC3	chr7:86737473-86737719	K562	blood:	n/a	n/a
6	MAZ	chr7:86737515-86738144	K562	blood:	n/a	n/a
7	EGR1	chr7:86737323-86738135	K562	blood:	n/a	chr7:86737922-86737931 chr7:86737921-86737932 chr7:86737915-86737937 chr7:86737920-86737933 chr7:86737920-86737933 chr7:86737921-86737930 chr7:86737921-86737931 chr7:86737920-86737933 chr7:86737919-86737933 chr7:86737921-86737932 chr7:86737919-86737934 chr7:86737921-86737931
8	YY1	chr7:86737346-86737671	K562	blood:	n/a	n/a
9	GATA1	chr7:86737379-86738320	PBDE	blood:	n/a	n/a
10	MAFF	chr7:86737312-86737872	K562	blood:	n/a	chr7:86737474-86737488
11	JUND	chr7:86736407-86738196	K562	blood:	n/a	chr7:86737476-86737486 chr7:86737695-86737706 chr7:86736837-86736844 chr7:86737730-86737739
12	YY1	chr7:86737300-86737651	K562	blood:	n/a	n/a
13	EP300	chr7:86737503-86738624	K562	blood:	n/a	chr7:86738300-86738314
14	TEAD4	chr7:86737490-86738152	K562	blood:	n/a	n/a
15	TEAD4	chr7:86737370-86738144	K562	blood:	n/a	n/a
16	MAFK	chr7:86737273-86738027	K562	blood:	n/a	chr7:86737474-86737488 chr7:86737477-86737487 chr7:86737478-86737487 chr7:86737471-86737491

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86736144..86740329-chr7:86781903..86788552,7	K562	blood:
2	chr7:86735742..86738656-chr7:86781350..86784765,3	K562	blood:

Variant related genes	Relation type
ENSG00000261462	TF binding region
ENSG00000224046	Chromatin interaction
ENSG00000135164	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10231806	0.89[AMR][1000 genomes]
rs10270331	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10480550	0.99[ASN][1000 genomes]
rs10480551	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480552	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10480553	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11975476	0.83[GIH][hapmap];0.80[JPT][hapmap]
rs13237269	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs13245768	0.81[YRI][hapmap];0.95[AMR][1000 genomes]
rs17698411	0.85[ASN][1000 genomes]
rs17766011	0.85[ASN][1000 genomes]
rs1859122	0.90[GIH][hapmap];0.80[JPT][hapmap]
rs1859125	0.84[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs1859126	0.83[ASN][1000 genomes]
rs1859127	0.83[ASN][1000 genomes]
rs1859128	0.82[CHB][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs1981536	0.86[ASN][1000 genomes]
rs2106951	1.00[MEX][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes]
rs2106952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106953	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2106954	0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2214351	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373387	0.88[CHD][hapmap];0.84[MEX][hapmap]
rs2373389	0.84[ASN][1000 genomes]
rs4727144	0.80[JPT][hapmap]
rs4728679	0.81[MEX][hapmap]
rs56327053	0.85[ASN][1000 genomes]
rs56981276	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6465092	0.82[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs6958141	0.83[GIH][hapmap];0.80[JPT][hapmap]
rs6958626	0.87[ASW][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs6958797	0.84[ASN][1000 genomes]
rs6959152	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs720775	1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs739711	0.87[ASN][1000 genomes]
rs739712	0.87[ASN][1000 genomes]
rs744136	0.86[ASN][1000 genomes]
rs7458957	0.99[ASN][1000 genomes]
rs7782008	0.83[ASN][1000 genomes]
rs875777	0.92[ASN][1000 genomes]
rs886318	0.87[ASW][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs9886109	0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1015870	chr7:86490491-86802320	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
5	nsv539000	chr7:86490491-86802320	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
6	nsv527889	chr7:86496042-86832603	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
7	nsv1028503	chr7:86684514-86778047	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1033834	chr7:86691235-86770796	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv539002	chr7:86691235-86770796	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023137	chr7:86725145-86767689	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv966725	chr7:86735170-86740059	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86733600-86740800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:86735800-86737800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:86736400-86738200	Flanking Active TSS	K562	blood
4	chr7:86737200-86738200	Enhancers	Primary T cells from cord blood	blood
5	chr7:86737400-86737600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:86737400-86740000	Weak transcription	NHDF-Ad	bronchial

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