Variant report

Variant	rs10124979
Chromosome Location	chr9:115654843-115654844
allele	G/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	CTCF	chr9:115654700-115654850	HEK293	kidney:	n/a	chr9:115654757-115654775
2	CTCF	chr9:115654740-115654890	GM12873	blood:	n/a	chr9:115654757-115654775
3	RAD21	chr9:115654549-115654967	H1-hESC	embryonic stem cell:	n/a	chr9:115654761-115654774 chr9:115654758-115654777
4	CTCF	chr9:115654760-115654910	GM12872	blood:	n/a	n/a
5	CTCF	chr9:115654740-115654890	NB4	blood:	n/a	chr9:115654757-115654775
6	CTCF	chr9:115654780-115654930	HCM	heart:	n/a	n/a
7	CTCF	chr9:115654740-115654890	HepG2	liver:	n/a	chr9:115654757-115654775

No.	Distal block	Cell Line	Cell type
1	chr9:115653409..115654935-chr9:115663870..115665546,2	MCF-7	breast:
2	chr9:115653737..115657233-chr9:115662868..115665778,3	K562	blood:
3	chr9:115647367..115649652-chr9:115652587..115654849,2	MCF-7	breast:
4	chr9:115653499..115655772-chr9:115659487..115662405,2	MCF-7	breast:

Variant related genes	Relation type
SLC46A2	TF binding region
ENSG00000271631	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10115576	0.82[CEU][hapmap]
rs10115711	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10124260	1.00[ASN][1000 genomes]
rs10124939	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10733594	1.00[ASN][1000 genomes]
rs10733598	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10733599	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739370	1.00[ASN][1000 genomes]
rs10739373	1.00[ASN][1000 genomes]
rs10739374	1.00[ASN][1000 genomes]
rs10739376	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10739378	0.82[CEU][hapmap]
rs10739380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10759590	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10759603	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10759604	1.00[ASN][1000 genomes]
rs1158331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1324931	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1418409	1.00[ASN][1000 genomes]
rs1475293	0.82[CEU][hapmap]
rs1539338	1.00[ASN][1000 genomes]
rs1570754	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1693411	1.00[ASN][1000 genomes]
rs1711746	1.00[ASN][1000 genomes]
rs1711747	1.00[ASN][1000 genomes]
rs1832890	1.00[ASN][1000 genomes]
rs1891402	1.00[ASN][1000 genomes]
rs2025544	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051018	1.00[ASN][1000 genomes]
rs2147643	1.00[ASN][1000 genomes]
rs2147646	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153837	1.00[ASN][1000 genomes]
rs2182048	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185769	1.00[ASN][1000 genomes]
rs2645985	1.00[ASN][1000 genomes]
rs2645994	1.00[ASN][1000 genomes]
rs2796025	1.00[ASN][1000 genomes]
rs2796028	1.00[ASN][1000 genomes]
rs2796031	1.00[ASN][1000 genomes]
rs2796035	1.00[ASN][1000 genomes]
rs4246892	1.00[ASN][1000 genomes]
rs4360356	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4549852	1.00[ASN][1000 genomes]
rs4978507	1.00[ASN][1000 genomes]
rs4978510	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4978511	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4979154	1.00[ASN][1000 genomes]
rs4979155	1.00[ASN][1000 genomes]
rs4979157	1.00[ASN][1000 genomes]
rs4979165	1.00[ASN][1000 genomes]
rs4979170	0.82[CEU][hapmap]
rs4979183	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979184	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979186	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6477959	1.00[ASN][1000 genomes]
rs700122	1.00[ASN][1000 genomes]
rs7026450	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7030795	1.00[ASN][1000 genomes]
rs7038684	1.00[ASN][1000 genomes]
rs7040954	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041965	1.00[ASN][1000 genomes]
rs7047914	1.00[ASN][1000 genomes]
rs7859175	1.00[ASN][1000 genomes]
rs7869100	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786961	1.00[ASN][1000 genomes]
rs786965	1.00[ASN][1000 genomes]
rs786966	1.00[ASN][1000 genomes]
rs786967	1.00[ASN][1000 genomes]
rs786968	1.00[ASN][1000 genomes]
rs786969	1.00[ASN][1000 genomes]
rs786972	1.00[ASN][1000 genomes]
rs786973	1.00[ASN][1000 genomes]
rs786977	1.00[ASN][1000 genomes]
rs7872628	1.00[ASN][1000 genomes]
rs787278	1.00[ASN][1000 genomes]
rs787281	1.00[ASN][1000 genomes]
rs787285	1.00[ASN][1000 genomes]
rs787286	1.00[ASN][1000 genomes]
rs787287	1.00[ASN][1000 genomes]
rs787291	1.00[ASN][1000 genomes]
rs787296	1.00[ASN][1000 genomes]
rs787299	1.00[ASN][1000 genomes]
rs787302	1.00[ASN][1000 genomes]
rs787303	1.00[ASN][1000 genomes]
rs7873289	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs885387	1.00[ASN][1000 genomes]
rs912662	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947609	1.00[ASN][1000 genomes]
rs980345	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2757352	chr9:115648457-115664299	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv529036	chr9:115652836-115655849	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115653200-115659000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr9:115653400-115656000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:115653600-115655600	Weak transcription	Osteobl	bone
4	chr9:115654000-115656600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:115654800-115657600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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