Variant report

Variant	rs73329298
Chromosome Location	chr12:67218036-67218037
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:67216740..67218475-chr12:67222220..67224061,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57908585	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58979102	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7304987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317181	1.00[AMR][1000 genomes]
rs73329292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73329297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331111	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331116	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73331130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73333072	1.00[AMR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1042117	chr12:67171949-67257435	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1038689	chr12:67174430-67257435	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1044061	chr12:67178298-67257941	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67216200-67218600	Enhancers	HMEC	breast
2	chr12:67216400-67218400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:67216600-67218400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:67216600-67218600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:67216800-67218600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr12:67216800-67219600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:67217200-67218200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:67217200-67219400	Enhancers	Colon Smooth Muscle	Colon
9	chr12:67217400-67218200	Enhancers	Fetal Heart	heart
10	chr12:67217600-67218400	Enhancers	Stomach Smooth Muscle	stomach
11	chr12:67217800-67218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:67217800-67218200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:67217800-67218200	Enhancers	Rectal Smooth Muscle	rectum
14	chr12:67217800-67218400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:67217800-67218400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:67217800-67218400	Enhancers	Placenta	Placenta
17	chr12:67217800-67218400	Enhancers	Psoas Muscle	Psoas
18	chr12:67217800-67218400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:67217800-67218400	Enhancers	A549	lung
20	chr12:67217800-67218400	Flanking Active TSS	NHEK	skin
21	chr12:67217800-67219600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:67218000-67218400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:67218000-67218600	Enhancers	HUES64 Cell Line	embryonic stem cell

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