Variant report

Variant	rs4246010
Chromosome Location	chr5:111592354-111592355
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:111587450..111590273-chr5:111592333..111594588,2	K562	blood:
2	chr5:111590915..111592513-chr5:111595143..111597882,2	K562	blood:
3	chr5:111587415..111588930-chr5:111591870..111593534,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10059647	0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10075926	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085152	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11241159	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11739692	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12653798	0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs34649768	0.83[ASN][1000 genomes]
rs4311468	0.87[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4312931	0.91[JPT][hapmap]
rs62364134	0.82[ASN][1000 genomes]
rs6421836	0.82[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6875782	0.83[ASN][1000 genomes]
rs6888754	0.91[CHD][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7723465	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7732679	0.87[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7732687	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs9326850	0.84[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
rs4246010	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	chr5:111567400-111602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:111568600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:111581800-111595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:111584800-111605600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:111585600-111593400	Weak transcription	Fetal Brain Female	brain
7	chr5:111585800-111606000	Weak transcription	Spleen	Spleen
8	chr5:111586600-111626400	Weak transcription	Gastric	stomach
9	chr5:111590000-111593000	Weak transcription	Fetal Heart	heart
10	chr5:111590200-111593000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:111590400-111593000	Weak transcription	HUVEC	blood vessel
12	chr5:111590400-111609600	Weak transcription	Psoas Muscle	Psoas
13	chr5:111590400-111628200	Weak transcription	Aorta	Aorta
14	chr5:111590600-111598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:111590600-111605800	Weak transcription	Right Ventricle	heart
16	chr5:111590800-111592800	Weak transcription	Adipose Nuclei	Adipose
17	chr5:111590800-111617000	Weak transcription	Left Ventricle	heart
18	chr5:111590800-111617200	Weak transcription	Esophagus	oesophagus
19	chr5:111590800-111618200	Weak transcription	Right Atrium	heart
20	chr5:111591400-111592600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:111591400-111597400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:111591400-111606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:111591800-111592400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:111592200-111594800	Enhancers	Cortex derived primary cultured neurospheres	brain

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