Variant report

Variant	rs73105950
Chromosome Location	chr12:48580230-48580231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48578276..48580987-chr12:48583534..48585807,2	K562	blood:
2	chr12:48579750..48581259-chr12:48592126..48593668,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269514	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10875752	0.88[ASN][1000 genomes]
rs10875754	0.85[ASN][1000 genomes]
rs10875759	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875761	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10875765	0.99[ASN][1000 genomes]
rs10875766	0.91[ASN][1000 genomes]
rs11168434	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11168435	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11168438	0.93[ASN][1000 genomes]
rs11168439	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168442	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168443	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11168444	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168445	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168446	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168447	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168448	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168453	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168454	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2171643	0.99[ASN][1000 genomes]
rs56097189	0.95[ASN][1000 genomes]
rs59537300	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580658	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66507954	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132898	0.91[ASN][1000 genomes]
rs7133274	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136243	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136782	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136788	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73304926	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7484942	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7962390	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962569	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8181670	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48576600-48580400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr12:48578000-48580400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:48578200-48580400	Enhancers	Esophagus	oesophagus
4	chr12:48578400-48580400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:48578600-48580400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:48579000-48580400	Bivalent Enhancer	GM12878-XiMat	blood
7	chr12:48579200-48580400	Active TSS	Brain Cingulate Gyrus	brain
8	chr12:48579400-48580400	Bivalent Enhancer	HSMM	muscle
9	chr12:48579600-48580400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48579600-48580400	Flanking Active TSS	Fetal Brain Female	brain
11	chr12:48579800-48580400	Enhancers	Brain Anterior Caudate	brain
12	chr12:48579800-48580400	Flanking Active TSS	Fetal Brain Male	brain
13	chr12:48580000-48580400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:48580000-48580400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:48580000-48591000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:48580200-48580400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:48580200-48580400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
18	chr12:48580200-48583200	Weak transcription	Brain Angular Gyrus	brain

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