Variant report

Variant	rs73397357
Chromosome Location	chr12:106127856-106127857
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106126086..106128636-chr12:106139690..106141510,2	MCF-7	breast:
2	chr12:106123113..106125890-chr12:106127769..106130574,2	MCF-7	breast:
3	chr12:106126183..106128065-chr12:106252083..106254658,2	MCF-7	breast:
4	chr12:106127208..106129011-chr12:106532051..106534056,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55701064	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55712943	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714319	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55991033	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56122277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58507825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58931652	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60038102	0.83[AMR][1000 genomes]
rs60920224	0.83[AMR][1000 genomes]
rs73397326	1.00[AMR][1000 genomes]
rs73397340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397341	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397345	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397350	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397351	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397356	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397370	0.83[AMR][1000 genomes]
rs73399332	0.83[AMR][1000 genomes]
rs73399335	0.83[AMR][1000 genomes]
rs73399339	0.83[AMR][1000 genomes]
rs73399342	0.83[AMR][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	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899503	chr12:106021477-106175903	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1047810	chr12:106067049-106246582	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1040261	chr12:106068992-106246582	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv899504	chr12:106095906-106135942	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106126000-106129200	Weak transcription	HSMM	muscle
2	chr12:106126600-106133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:106127200-106130400	Weak transcription	Left Ventricle	heart
4	chr12:106127200-106130600	Weak transcription	Right Atrium	heart
5	chr12:106127200-106132400	Weak transcription	Lung	lung
6	chr12:106127400-106132000	Weak transcription	HSMMtube	muscle
7	chr12:106127400-106134600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:106127600-106132400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:106127800-106128000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:106127800-106128600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:106127800-106129200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:106127800-106130800	Weak transcription	Liver	Liver
13	chr12:106127800-106130800	Weak transcription	Right Ventricle	heart

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