Variant report

Variant	rs11065191
Chromosome Location	chr12:121096581-121096582
allele	A/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	chr12:121096524-121096635	MCF-7	breast:	n/a	n/a
2	POLR2A	chr12:121096540-121096583	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:121096549-121096617	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121095512..121100910-chr12:121122531..121126551,5	MCF-7	breast:
2	chr12:121093575..121096637-chr12:121103077..121105014,3	MCF-7	breast:

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000110917	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10431372	0.86[EUR][1000 genomes]
rs10431383	0.86[EUR][1000 genomes]
rs10774564	0.92[CHB][hapmap];0.80[JPT][hapmap];0.90[ASN][1000 genomes]
rs10774565	0.86[CHB][hapmap];0.91[ASN][1000 genomes]
rs10849774	0.92[CHB][hapmap];0.80[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849775	0.89[ASN][1000 genomes]
rs10849780	0.86[EUR][1000 genomes]
rs10849781	0.86[EUR][1000 genomes]
rs11065183	0.85[ASN][1000 genomes]
rs11065184	0.93[CHB][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065186	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11065188	0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065189	0.92[CHB][hapmap];0.87[JPT][hapmap];0.92[YRI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11065192	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11065193	0.91[ASN][1000 genomes]
rs11065194	0.85[CHB][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065195	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065196	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065197	0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065198	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065199	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065204	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065205	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065214	0.86[EUR][1000 genomes]
rs11065215	0.86[EUR][1000 genomes]
rs11065217	0.86[EUR][1000 genomes]
rs11065220	0.86[EUR][1000 genomes]
rs11065221	0.86[EUR][1000 genomes]
rs11065224	0.86[EUR][1000 genomes]
rs11065229	0.86[EUR][1000 genomes]
rs11065234	0.86[EUR][1000 genomes]
rs11065235	0.86[EUR][1000 genomes]
rs11065244	0.86[EUR][1000 genomes]
rs12228118	0.86[EUR][1000 genomes]
rs12228187	0.93[CHB][hapmap];0.88[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12229164	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12229181	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12231499	0.86[EUR][1000 genomes]
rs12310160	0.86[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs17848090	0.86[EUR][1000 genomes]
rs2071266	0.86[EUR][1000 genomes]
rs2229534	0.86[EUR][1000 genomes]
rs2239687	0.86[EUR][1000 genomes]
rs2239757	0.86[EUR][1000 genomes]
rs2239759	0.86[EUR][1000 genomes]
rs3751166	0.86[EUR][1000 genomes]
rs3809310	0.83[CHB][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3809311	0.92[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7302002	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7956304	0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs7973568	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121090000-121097000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:121090000-121106000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:121091000-121104400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:121091000-121107000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:121091200-121106600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:121091200-121106800	Weak transcription	Brain Germinal Matrix	brain
7	chr12:121092000-121098000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:121092200-121096600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:121093000-121096600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:121093000-121096600	Weak transcription	Left Ventricle	heart
11	chr12:121093000-121096600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:121093000-121107200	Weak transcription	Right Atrium	heart
13	chr12:121093200-121107000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:121093200-121107200	Weak transcription	Fetal Lung	lung
15	chr12:121095600-121104400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:121096000-121097600	Weak transcription	Fetal Brain Female	brain
17	chr12:121096200-121105800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:121096400-121096600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:121096400-121096600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:121096400-121096600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:121096400-121096600	Bivalent Enhancer	HepG2	liver
22	chr12:121096400-121097200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:121096400-121097400	Enhancers	Right Ventricle	heart
24	chr12:121096400-121098200	Enhancers	Spleen	Spleen

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