Variant report

Variant	rs73293480
Chromosome Location	chr12:50296096-50296097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:50296080-50296230	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50295593..50300153-chr12:50302401..50306371,6	MCF-7	breast:
2	chr12:50290402..50293463-chr12:50294998..50297478,3	MCF-7	breast:
3	chr12:50221331..50224259-chr12:50293444..50296232,2	K562	blood:

Variant related genes	Relation type
FAIM2	TF binding region
ENSG00000258135	Chromatin interaction
ENSG00000135472	Chromatin interaction
ENSG00000258057	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000257771	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17124115	0.85[EUR][1000 genomes]
rs394682	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv525920	chr12:50285061-50304949	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558836	chr12:50290023-50316439	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr12:50267000-50297000	Weak transcription	Right Atrium	heart
2	chr12:50289800-50296200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:50291200-50296200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:50292000-50297400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:50295200-50303000	Weak transcription	K562	blood
6	chr12:50295400-50296600	Enhancers	Fetal Brain Male	brain
7	chr12:50295600-50296200	Enhancers	Brain Substantia Nigra	brain
8	chr12:50295600-50297000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:50295600-50297000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:50295600-50297800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:50295800-50296200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr12:50295800-50296200	Enhancers	Brain Anterior Caudate	brain
13	chr12:50295800-50296200	Weak transcription	Fetal Stomach	stomach
14	chr12:50295800-50296400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:50295800-50296800	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr12:50296000-50296200	Enhancers	Brain Angular Gyrus	brain
17	chr12:50296000-50296200	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:50296000-50296200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr12:50296000-50296200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr12:50296000-50296400	Flanking Active TSS	Brain Hippocampus Middle	brain
21	chr12:50296000-50296600	Flanking Active TSS	Fetal Brain Female	brain

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