Variant report

Variant	rs504290
Chromosome Location	chr11:63538668-63538669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63529280..63533473-chr11:63536389..63539836,6	MCF-7	breast:
2	chr11:63533629..63535902-chr11:63537475..63539173,2	MCF-7	breast:
3	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
4	chr11:63536948..63539321-chr11:63636062..63638062,2	K562	blood:

Variant related genes	Relation type
ENSG00000168005	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000188070	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs477063	0.82[AFR][1000 genomes]
rs518175	0.91[AFR][1000 genomes]
rs537819	0.91[AFR][1000 genomes]
rs565930	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3322085	chr11:63534376-63538774	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63537400-63538800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:63537400-63538800	Weak transcription	A549	lung
3	chr11:63537600-63538800	Weak transcription	NHDF-Ad	bronchial
4	chr11:63537600-63538800	Weak transcription	Osteobl	bone
5	chr11:63537600-63539200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:63537600-63539200	Bivalent Enhancer	Fetal Thymus	thymus
7	chr11:63537600-63539400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:63537600-63539800	Enhancers	Placenta	Placenta
9	chr11:63537600-63542200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:63537600-63546200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:63537800-63538800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:63537800-63538800	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:63537800-63539200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:63537800-63539800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:63537800-63539800	Weak transcription	Fetal Kidney	kidney
16	chr11:63537800-63540200	Weak transcription	Right Ventricle	heart
17	chr11:63538000-63539200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:63538000-63539800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:63538000-63542400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:63538200-63539200	Weak transcription	Fetal Brain Male	brain
21	chr11:63538400-63538800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:63538400-63539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:63538400-63539400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:63538600-63539000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:63538600-63539200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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