Variant report

Variant	rs297915
Chromosome Location	chr12:50299624-50299625
allele	A/C/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	USF1	chr12:50299534-50299821	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50293107..50297008-chr12:50298407..50301335,3	MCF-7	breast:
2	chr12:50283500..50287015-chr12:50298892..50302094,3	MCF-7	breast:
3	chr12:50295593..50300153-chr12:50302401..50306371,6	MCF-7	breast:
4	chr12:50278311..50281286-chr12:50298604..50300536,3	MCF-7	breast:

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

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17119741	1.00[EUR][1000 genomes]
rs2232209	1.00[EUR][1000 genomes]
rs297903	1.00[EUR][1000 genomes]
rs297904	1.00[EUR][1000 genomes]
rs297908	1.00[EUR][1000 genomes]
rs297912	1.00[EUR][1000 genomes]
rs364895	1.00[EUR][1000 genomes]
rs440721	1.00[EUR][1000 genomes]
rs487193	1.00[EUR][1000 genomes]
rs55853170	1.00[EUR][1000 genomes]
rs57423894	1.00[EUR][1000 genomes]
rs7304815	1.00[EUR][1000 genomes]
rs74089213	1.00[EUR][1000 genomes]
rs74091125	1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50295200-50303000	Weak transcription	K562	blood
2	chr12:50298200-50300800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:50298200-50301000	Weak transcription	HSMM	muscle
4	chr12:50298200-50303000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:50298200-50307800	Weak transcription	Right Atrium	heart
6	chr12:50298400-50301000	Weak transcription	HSMMtube	muscle
7	chr12:50298400-50301200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:50298400-50303200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:50298400-50308000	Weak transcription	Pancreas	Pancrea
10	chr12:50298600-50299800	Enhancers	Fetal Stomach	stomach
11	chr12:50298600-50301000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:50298600-50301200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:50298600-50303000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:50298600-50303400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:50298800-50301000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:50298800-50301000	Weak transcription	Brain Substantia Nigra	brain
17	chr12:50299000-50300200	Weak transcription	Brain Anterior Caudate	brain
18	chr12:50299000-50300400	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:50299000-50301200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:50299600-50300200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr12:50299600-50301000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:50299600-50303400	Weak transcription	Brain Germinal Matrix	brain

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