Variant report

Variant	rs73378325
Chromosome Location	chr12:75964867-75964868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75964046..75966886-chr20:30181769..30183589,2	MCF-7	breast:
2	chr12:75955678..75958303-chr12:75962611..75964917,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10082902	1.00[AFR][1000 genomes]
rs11180571	1.00[AFR][1000 genomes]
rs11180572	1.00[AFR][1000 genomes]
rs11180573	0.86[AFR][1000 genomes]
rs11180578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299712	0.82[AFR][1000 genomes]
rs12302030	0.82[AFR][1000 genomes]
rs12302079	1.00[AMR][1000 genomes]
rs12312606	1.00[AFR][1000 genomes]
rs12315633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12318161	1.00[AFR][1000 genomes]
rs60131646	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61156377	0.82[AFR][1000 genomes]
rs73361929	1.00[AFR][1000 genomes]
rs73361938	1.00[AFR][1000 genomes]
rs73361945	0.98[AFR][1000 genomes]
rs73361948	1.00[AFR][1000 genomes]
rs73378350	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378352	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75958800-75965000	Weak transcription	Fetal Brain Female	brain
2	chr12:75960200-75966000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:75962800-75965400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:75962800-75966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:75963000-75965000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:75963000-75965200	Weak transcription	HMEC	breast
7	chr12:75963000-75966200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:75963800-75965600	Enhancers	Fetal Lung	lung
9	chr12:75964000-75966800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:75964200-75966000	Enhancers	Brain Hippocampus Middle	brain
11	chr12:75964400-75965600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:75964400-75966200	Enhancers	Brain Germinal Matrix	brain
13	chr12:75964600-75965000	Enhancers	Brain Angular Gyrus	brain
14	chr12:75964600-75965000	Enhancers	Brain Cingulate Gyrus	brain
15	chr12:75964600-75965600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr12:75964600-75966000	Enhancers	HUVEC	blood vessel
17	chr12:75964800-75965600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:75964800-75965800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:75964800-75965800	Enhancers	Brain Substantia Nigra	brain
20	chr12:75964800-75966000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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