Variant report

Variant	rs11057297
Chromosome Location	chr12:124055090-124055091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124047707..124050611-chr12:124054919..124057365,3	MCF-7	breast:
2	chr12:124041024..124043349-chr12:124054707..124057427,2	MCF-7	breast:
3	chr12:124017387..124020298-chr12:124054468..124057519,3	MCF-7	breast:
4	chr12:124054266..124056450-chr12:124065485..124066989,2	MCF-7	breast:
5	chr1:150334954..150337894-chr12:124054865..124057568,2	MCF-7	breast:
6	chr12:124014995..124016623-chr12:124054786..124056310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction
ENSG00000188026	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1057879	0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10846526	0.82[ASN][1000 genomes]
rs10846528	0.93[ASN][1000 genomes]
rs2048615	0.81[ASN][1000 genomes]
rs2333831	0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28371124	0.81[ASN][1000 genomes]
rs28408980	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28430750	0.81[ASN][1000 genomes]
rs28465339	0.82[ASN][1000 genomes]
rs28478446	0.81[ASN][1000 genomes]
rs28497190	0.81[ASN][1000 genomes]
rs28539789	0.82[ASN][1000 genomes]
rs28654896	0.82[ASN][1000 genomes]
rs28701527	0.81[ASN][1000 genomes]
rs28707421	0.81[ASN][1000 genomes]
rs28712858	0.81[ASN][1000 genomes]
rs28741988	0.81[ASN][1000 genomes]
rs28758342	0.82[ASN][1000 genomes]
rs28834793	0.90[ASN][1000 genomes]
rs3850952	1.00[JPT][hapmap]
rs4930713	1.00[JPT][hapmap]
rs4930714	1.00[JPT][hapmap]
rs61953552	0.82[ASN][1000 genomes]
rs61953557	0.82[ASN][1000 genomes]
rs6488878	0.94[CEU][hapmap]
rs71458805	0.81[ASN][1000 genomes]
rs7313751	0.81[EUR][1000 genomes]
rs7315326	0.91[ASN][1000 genomes]
rs7398935	0.81[EUR][1000 genomes]
rs786447	1.00[JPT][hapmap]
rs786454	0.96[ASN][1000 genomes]
rs7956299	0.81[EUR][1000 genomes]
rs7959727	0.87[ASN][1000 genomes]
rs7962151	0.80[EUR][1000 genomes]
rs9919	1.00[JPT][hapmap]

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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
6	esv2422416	chr12:124009676-124085689	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124054200-124055400	Enhancers	Dnd41	blood
2	chr12:124054600-124056000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr12:124054600-124056200	Enhancers	Fetal Thymus	thymus
4	chr12:124054600-124056400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:124054800-124055200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:124054800-124055400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:124054800-124055400	Flanking Active TSS	HepG2	liver
8	chr12:124054800-124055800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:124054800-124056000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:124054800-124056000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:124054800-124056000	Enhancers	K562	blood
12	chr12:124054800-124056200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:124054800-124056200	Enhancers	Thymus	Thymus
14	chr12:124054800-124056200	Enhancers	HUVEC	blood vessel
15	chr12:124054800-124056200	Enhancers	NHEK	skin
16	chr12:124055000-124055200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:124055000-124056200	Weak transcription	NHDF-Ad	bronchial
18	chr12:124055000-124056400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:124055000-124056400	Enhancers	Osteobl	bone
20	chr12:124055000-124065000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:124055000-124067400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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