Variant report

Variant	rs12303039
Chromosome Location	chr12:9390298-9390299
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	FOS	chr12:9389873-9390328	MCF10A-Er-Src	breast:	n/a	chr12:9390209-9390218
2	STAT3	chr12:9389960-9390451	MCF10A-Er-Src	breast:	n/a	chr12:9390118-9390127
3	FOS	chr12:9389873-9390313	MCF10A-Er-Src	breast:	n/a	chr12:9390209-9390218
4	FOS	chr12:9389891-9390311	MCF10A-Er-Src	breast:	n/a	chr12:9390209-9390218
5	FOS	chr12:9389875-9390358	MCF10A-Er-Src	breast:	n/a	chr12:9390209-9390218
6	STAT3	chr12:9389929-9390620	MCF10A-Er-Src	breast:	n/a	chr12:9390118-9390127
7	STAT3	chr12:9389819-9390603	MCF10A-Er-Src	breast:	n/a	chr12:9390118-9390127

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9389499..9391072-chr12:9394393..9395954,2	MCF-7	breast:

Variant related genes	Relation type
LINC00987	TF binding region
A2MP1	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1035848	0.94[CEU][hapmap];0.92[CHB][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843160	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843222	0.81[JPT][hapmap]
rs10843223	0.80[JPT][hapmap]
rs11049326	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11049626	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11049631	0.81[ASN][1000 genomes]
rs11049637	0.81[ASN][1000 genomes]
rs11049640	0.81[ASN][1000 genomes]
rs12423745	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs12823018	0.81[ASN][1000 genomes]
rs2059758	0.81[ASN][1000 genomes]
rs2059759	0.83[CHB][hapmap];0.80[JPT][hapmap];0.80[ASN][1000 genomes]
rs2195208	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2195210	0.81[ASN][1000 genomes]
rs2195212	0.81[ASN][1000 genomes]
rs2217228	0.81[ASN][1000 genomes]
rs2377747	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2889719	0.81[ASN][1000 genomes]
rs4353323	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4883223	0.81[ASN][1000 genomes]
rs6487682	0.81[ASN][1000 genomes]
rs6487683	0.81[ASN][1000 genomes]
rs7136755	0.81[ASN][1000 genomes]
rs7136909	0.81[ASN][1000 genomes]
rs7137281	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7137569	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7311471	0.81[ASN][1000 genomes]
rs7311480	0.81[ASN][1000 genomes]
rs7311615	0.81[ASN][1000 genomes]
rs7954451	0.80[JPT][hapmap]
rs7959444	0.81[ASN][1000 genomes]
rs7965498	0.81[ASN][1000 genomes]
rs7979204	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv527404	chr12:9250601-9435244	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
7	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
8	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
9	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
10	nsv973021	chr12:9389409-9393436	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	3 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	chr12:9374400-9392600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:9376200-9392600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:9383400-9392600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:9383800-9392600	Weak transcription	Left Ventricle	heart
5	chr12:9387000-9392600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:9388400-9392600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:9390200-9390400	Enhancers	HepG2	liver

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