Variant report

Variant	rs10478076
Chromosome Location	chr5:111609923-111609924
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10051088	0.87[EUR][1000 genomes]
rs10478074	0.95[ASN][1000 genomes]
rs12652766	0.87[ASN][1000 genomes]
rs12655450	0.89[ASN][1000 genomes]
rs12656841	0.94[ASN][1000 genomes]
rs12657885	0.86[EUR][1000 genomes]
rs12719140	0.95[ASN][1000 genomes]
rs13170079	0.86[EUR][1000 genomes]
rs13358904	0.95[ASN][1000 genomes]
rs28620667	0.92[ASN][1000 genomes]
rs34640353	0.86[EUR][1000 genomes]
rs34819608	0.91[ASN][1000 genomes]
rs35005258	0.85[ASN][1000 genomes]
rs36049225	0.85[ASN][1000 genomes]
rs4323272	0.94[ASN][1000 genomes]
rs4635975	0.89[ASN][1000 genomes]
rs4958024	0.89[ASN][1000 genomes]
rs4958026	0.91[ASN][1000 genomes]
rs4958029	0.91[ASN][1000 genomes]
rs4958030	0.85[EUR][1000 genomes]
rs55638951	0.80[EUR][1000 genomes]
rs57970031	0.89[ASN][1000 genomes]
rs59775924	0.89[ASN][1000 genomes]
rs60823180	0.91[ASN][1000 genomes]
rs61475230	0.91[ASN][1000 genomes]
rs61535569	0.91[ASN][1000 genomes]
rs62364080	0.94[ASN][1000 genomes]
rs6879361	0.89[ASN][1000 genomes]
rs7715255	0.90[ASN][1000 genomes]
rs7716479	0.93[ASN][1000 genomes]
rs7724582	0.87[EUR][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	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	chr5:111586600-111626400	Weak transcription	Gastric	stomach
2	chr5:111590400-111628200	Weak transcription	Aorta	Aorta
3	chr5:111590800-111617000	Weak transcription	Left Ventricle	heart
4	chr5:111590800-111617200	Weak transcription	Esophagus	oesophagus
5	chr5:111590800-111618200	Weak transcription	Right Atrium	heart
6	chr5:111594000-111611600	Weak transcription	Placenta	Placenta
7	chr5:111594800-111615000	Weak transcription	Fetal Kidney	kidney
8	chr5:111600800-111612800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:111601800-111612600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:111606000-111614200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:111607400-111611800	Weak transcription	Hela-S3	cervix
12	chr5:111609600-111610000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:111609600-111610000	Genic enhancers	Pancreas	Pancrea
14	chr5:111609800-111610000	Enhancers	Fetal Brain Male	brain
15	chr5:111609800-111610200	Weak transcription	Fetal Heart	heart

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