Variant report

Variant	rs10478075
Chromosome Location	chr5:111607966-111607967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10038904	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10056378	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10068536	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13361927	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1560053	1.00[YRI][hapmap]
rs173889	0.82[CEU][hapmap]
rs373362	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs375309	0.88[EUR][1000 genomes]
rs379440	1.00[CEU][hapmap]
rs413652	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs451904	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs55858222	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56212971	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56219213	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56281497	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56359113	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6594566	1.00[YRI][hapmap]
rs72781630	0.81[AMR][1000 genomes]
rs72781647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72781651	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72781662	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72781672	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72781674	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72781684	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72781686	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7704087	1.00[YRI][hapmap]
rs7709484	1.00[YRI][hapmap]

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	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111564600-111609600	Weak transcription	Pancreas	Pancrea
2	chr5:111568600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:111586600-111626400	Weak transcription	Gastric	stomach
4	chr5:111590400-111609600	Weak transcription	Psoas Muscle	Psoas
5	chr5:111590400-111628200	Weak transcription	Aorta	Aorta
6	chr5:111590800-111617000	Weak transcription	Left Ventricle	heart
7	chr5:111590800-111617200	Weak transcription	Esophagus	oesophagus
8	chr5:111590800-111618200	Weak transcription	Right Atrium	heart
9	chr5:111594000-111611600	Weak transcription	Placenta	Placenta
10	chr5:111594800-111615000	Weak transcription	Fetal Kidney	kidney
11	chr5:111600800-111612800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:111601800-111612600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:111605600-111608000	Enhancers	Fetal Heart	heart
14	chr5:111606000-111614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:111607400-111611800	Weak transcription	Hela-S3	cervix

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