Variant report

Variant	rs766454
Chromosome Location	chr5:114896050-114896051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114893635..114896285-chr5:114902455..114905206,2	MCF-7	breast:
2	chr5:114891420..114893149-chr5:114895048..114897672,2	K562	blood:
3	chr5:114884990..114887012-chr5:114894509..114897041,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10038493	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10041776	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10043094	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs10053572	0.96[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10055339	0.82[CEU][hapmap]
rs10073505	0.90[ASN][1000 genomes]
rs10079000	0.80[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1015812	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13153908	0.85[ASN][1000 genomes]
rs13184723	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356084	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13357862	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2032842	0.83[CHB][hapmap]
rs2052834	0.82[CEU][hapmap];0.86[MEX][hapmap]
rs2546484	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs256938	0.84[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs256965	0.81[ASN][1000 genomes]
rs256977	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256989	0.94[ASN][1000 genomes]
rs256995	0.92[ASN][1000 genomes]
rs372702	0.85[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6860557	0.96[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6878790	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6892071	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6893854	0.81[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs6894123	0.81[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs746566	0.93[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9326964	0.96[CEU][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs766454	TICAM2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114892600-114897200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114892800-114896200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:114893600-114896200	Enhancers	NH-A	brain
4	chr5:114893600-114896600	Enhancers	HSMM	muscle
5	chr5:114893600-114896600	Enhancers	NHDF-Ad	bronchial
6	chr5:114893800-114897200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:114894000-114897000	Weak transcription	Placenta	Placenta
8	chr5:114894000-114907200	Weak transcription	Pancreas	Pancrea
9	chr5:114894600-114907000	Weak transcription	Psoas Muscle	Psoas
10	chr5:114894600-114908800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:114895000-114896600	Enhancers	HSMMtube	muscle
12	chr5:114895200-114896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:114895600-114896600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:114895600-114896600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:114895600-114896600	Enhancers	NHLF	lung
16	chr5:114895600-114897200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:114895800-114897200	Enhancers	HMEC	breast
18	chr5:114895800-114900400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:114895800-114907200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:114896000-114897400	Enhancers	NHEK	skin

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