Variant report

Variant	rs13111624
Chromosome Location	chr4:8333579-8333580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11726498	0.80[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs11730196	0.97[ASN][1000 genomes]
rs12500987	0.95[ASN][1000 genomes]
rs12501630	0.95[ASN][1000 genomes]
rs12502535	0.95[ASN][1000 genomes]
rs13114241	0.95[ASN][1000 genomes]
rs13115325	0.95[ASN][1000 genomes]
rs13142816	0.97[ASN][1000 genomes]
rs1474314	0.95[ASN][1000 genomes]
rs1548214	0.83[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs1678312	0.87[ASN][1000 genomes]
rs1966978	0.81[ASN][1000 genomes]
rs2046027	0.88[ASN][1000 genomes]
rs2046028	0.88[ASN][1000 genomes]
rs35432937	0.88[ASN][1000 genomes]
rs3947755	0.88[ASN][1000 genomes]
rs4413391	0.85[ASN][1000 genomes]
rs6830628	0.89[ASN][1000 genomes]
rs754740	0.96[ASN][1000 genomes]
rs827022	0.81[ASN][1000 genomes]
rs9986018	0.85[ASN][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	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv470013	chr4:8315938-8377058	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv878605	chr4:8332057-8378959	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8325600-8338400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:8330400-8334200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr4:8331000-8333600	Enhancers	Fetal Muscle Leg	muscle
4	chr4:8331000-8333600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr4:8331000-8334200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:8331200-8334600	Enhancers	Right Ventricle	heart
7	chr4:8331400-8333600	Enhancers	Left Ventricle	heart
8	chr4:8332000-8333600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr4:8332200-8333600	Enhancers	Brain Cingulate Gyrus	brain
10	chr4:8332400-8333600	Enhancers	Adipose Nuclei	Adipose
11	chr4:8332400-8335200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:8332600-8333600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:8332800-8335800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:8333000-8336800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:8333400-8333600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:8333400-8342400	Weak transcription	Psoas Muscle	Psoas
17	chr4:8333400-8342400	Weak transcription	Right Atrium	heart

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