Variant report

Variant	rs12968377
Chromosome Location	chr18:14974516-14974517
allele	C/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	MYC	chr18:14974230-14974977	MCF10A-Er-Src	breast:	n/a	chr18:14974821-14974830 chr18:14974350-14974359 chr18:14974679-14974689
2	FOS	chr18:14974223-14974986	MCF10A-Er-Src	breast:	n/a	chr18:14974822-14974830 chr18:14974701-14974710 chr18:14974823-14974830 chr18:14974822-14974830
3	POLR2A	chr18:14974298-14975803	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr18:14974282-14974534	MCF10A-Er-Src	breast:	n/a	chr18:14974308-14974320 chr18:14974304-14974316 chr18:14974460-14974472
5	FOS	chr18:14974187-14975013	MCF10A-Er-Src	breast:	n/a	chr18:14974822-14974830 chr18:14974701-14974710 chr18:14974823-14974830 chr18:14974822-14974830
6	FOS	chr18:14974222-14974978	MCF10A-Er-Src	breast:	n/a	chr18:14974822-14974830 chr18:14974701-14974710 chr18:14974823-14974830 chr18:14974822-14974830
7	FOS	chr18:14974223-14975003	MCF10A-Er-Src	breast:	n/a	chr18:14974822-14974830 chr18:14974701-14974710 chr18:14974823-14974830 chr18:14974822-14974830
8	STAT3	chr18:14974219-14975000	MCF10A-Er-Src	breast:	n/a	chr18:14974308-14974320 chr18:14974304-14974316 chr18:14974460-14974472
9	STAT3	chr18:14974274-14974971	MCF10A-Er-Src	breast:	n/a	chr18:14974308-14974320 chr18:14974304-14974316 chr18:14974460-14974472
10	MYC	chr18:14974044-14975863	MCF10A-Er-Src	breast:	n/a	chr18:14974821-14974830 chr18:14974350-14974359 chr18:14974679-14974689

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:14970038..14971592-chr18:14972164..14974948,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263821	TF binding region
ENSG00000264301	TF binding region
ENSG00000264301	Chromatin interaction
ENSG00000266554	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12959896	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12964743	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12969097	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1829374	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1878802	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1976777	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28481769	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28524777	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3877190	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3889355	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243282	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4890740	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4890741	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56752121	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7230084	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7233093	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7237724	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093953	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9946841	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9947258	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9950732	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2751771	chr18:14704694-15106727	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv909434	chr18:14841828-15149366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv576542	chr18:14913292-14978677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv33381	chr18:14929347-15052868	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv961035	chr18:14935356-14984974	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv960221	chr18:14948300-14977956	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv576543	chr18:14949001-15178340	Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv2761993	chr18:14956916-15402408	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr18:14970400-14974800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:14971800-14977800	Enhancers	Muscle Satellite Cultured Cells	--
3	chr18:14972200-14977400	Enhancers	HUVEC	blood vessel
4	chr18:14972200-14977800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:14972200-14978000	Enhancers	Osteobl	bone
6	chr18:14972800-14974800	Weak transcription	HSMM	muscle
7	chr18:14974000-14975800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr18:14974200-14974600	Weak transcription	Spleen	Spleen
9	chr18:14974200-14975200	Weak transcription	HMEC	breast
10	chr18:14974400-14978000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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