Variant report

Variant	rs72946807
Chromosome Location	chr4:143371612-143371613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143364640..143366208-chr4:143371293..143374256,2	MCF-7	breast:
2	chr4:143367680..143375723-chr4:143391908..143397720,10	MCF-7	breast:
3	chr4:143370028..143372952-chr4:143766841..143769136,2	MCF-7	breast:
4	chr4:143371522..143373447-chr4:143534155..143537026,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10434184	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11930849	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947710	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4956443	0.82[EUR][1000 genomes]
rs58048713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59456427	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946813	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946826	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72946834	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946835	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946839	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946853	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946855	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946865	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946870	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946874	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946877	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72946889	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946892	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946896	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946898	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72946900	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72948704	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72948712	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72948719	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143367000-143392600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143368200-143373400	Weak transcription	HSMMtube	muscle
3	chr4:143368600-143373400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:143369200-143372800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr4:143369200-143410600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:143369400-143373400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:143369400-143376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:143371000-143374400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:143371200-143371800	Enhancers	Fetal Heart	heart
10	chr4:143371400-143376400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:143371600-143400800	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links