Variant report

Variant	rs366909
Chromosome Location	chr7:18260415-18260416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:18255243..18258028-chr7:18260325..18261899,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1007192	0.84[ASN][1000 genomes]
rs10265242	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10281630	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs109251	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs111978	0.83[EUR][1000 genomes]
rs11769668	0.82[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs1178311	0.86[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs1178313	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1178314	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1178315	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1178316	0.99[ASN][1000 genomes]
rs1178331	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs122617	0.89[ASN][1000 genomes]
rs13227027	0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs13232015	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1431334	0.83[ASN][1000 genomes]
rs17138794	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17138914	0.94[JPT][hapmap]
rs17418362	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1919317	0.81[ASN][1000 genomes]
rs2005774	0.83[ASN][1000 genomes]
rs2567209	0.86[ASN][1000 genomes]
rs2731554	0.92[ASN][1000 genomes]
rs302140	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs302141	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs302147	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs302148	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs302153	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs302155	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs302162	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs302164	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs302173	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs302176	0.84[EUR][1000 genomes]
rs34461394	1.00[ASN][1000 genomes]
rs35307869	0.99[ASN][1000 genomes]
rs35676223	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs436270	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs623532	1.00[JPT][hapmap]
rs624811	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs647270	1.00[JPT][hapmap]
rs679492	1.00[JPT][hapmap]
rs680882	1.00[JPT][hapmap]
rs73062451	0.81[ASN][1000 genomes]
rs758089	0.83[ASN][1000 genomes]
rs917329	0.83[ASN][1000 genomes]

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	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1026629	chr7:17862477-18362404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1025023	chr7:17865796-18357630	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1030201	chr7:17898410-18491985	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
6	nsv606357	chr7:17938491-18375245	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv606358	chr7:18084843-18416097	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
8	nsv887810	chr7:18193589-18391557	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv830914	chr7:18196730-18376047	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1029901	chr7:18205779-18387956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv830916	chr7:18254299-18433349	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs366909	TWIST1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18253200-18261600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:18253600-18261400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:18255800-18261200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:18259400-18261000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr7:18259400-18261400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr7:18260000-18261200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:18260400-18261400	Weak transcription	Fetal Heart	heart

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