Variant report

Variant	rs10478074
Chromosome Location	chr5:111603683-111603684
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10478076	0.95[ASN][1000 genomes]
rs12652766	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12655450	0.83[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12656841	0.90[ASN][1000 genomes]
rs12719140	0.85[CHB][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13358904	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28620667	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34819608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35005258	0.89[ASN][1000 genomes]
rs36049225	0.89[ASN][1000 genomes]
rs4323272	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs4635975	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4958024	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4958026	0.89[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4958027	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4958028	0.94[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4958029	0.89[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57970031	0.95[ASN][1000 genomes]
rs59775924	0.95[ASN][1000 genomes]
rs60823180	0.96[ASN][1000 genomes]
rs61475230	0.97[ASN][1000 genomes]
rs61535569	0.96[ASN][1000 genomes]
rs62364080	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6879361	0.94[ASN][1000 genomes]
rs7715255	0.89[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7716479	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9326851	1.00[CHB][hapmap];0.93[CHD][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10478074	CAMK4	cis	cerebellum	SCAN

Chromatin state (count:24 , 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	chr5:111584800-111605600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:111585800-111606000	Weak transcription	Spleen	Spleen
5	chr5:111586600-111626400	Weak transcription	Gastric	stomach
6	chr5:111590400-111609600	Weak transcription	Psoas Muscle	Psoas
7	chr5:111590400-111628200	Weak transcription	Aorta	Aorta
8	chr5:111590600-111605800	Weak transcription	Right Ventricle	heart
9	chr5:111590800-111617000	Weak transcription	Left Ventricle	heart
10	chr5:111590800-111617200	Weak transcription	Esophagus	oesophagus
11	chr5:111590800-111618200	Weak transcription	Right Atrium	heart
12	chr5:111591400-111606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:111593400-111605600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr5:111594000-111606200	Weak transcription	HUVEC	blood vessel
15	chr5:111594000-111611600	Weak transcription	Placenta	Placenta
16	chr5:111594800-111605800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:111594800-111615000	Weak transcription	Fetal Kidney	kidney
18	chr5:111595400-111604600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:111596000-111605800	Weak transcription	Hela-S3	cervix
20	chr5:111598600-111606200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:111600800-111612800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:111601800-111612600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:111603200-111604000	Enhancers	Adipose Nuclei	Adipose
24	chr5:111603400-111605600	Weak transcription	Fetal Heart	heart

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