Variant report

Variant	rs256972
Chromosome Location	chr5:114895480-114895481
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: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10055677	0.81[CEU][hapmap]
rs12187973	0.89[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs13164545	0.85[CEU][hapmap]
rs171774	0.81[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs173965	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs173966	0.92[ASN][1000 genomes]
rs187682	0.85[ASN][1000 genomes]
rs2169771	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2303747	0.81[CEU][hapmap]
rs2546486	0.96[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2546487	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2559990	0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs256943	0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs256944	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs256945	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs256951	0.81[CEU][hapmap]
rs256954	0.81[CEU][hapmap]
rs256956	0.86[JPT][hapmap]
rs256959	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs256964	0.81[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap]
rs256968	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs256969	0.90[ASN][1000 genomes]
rs256970	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256971	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256976	0.89[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs256978	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs256980	0.85[ASN][1000 genomes]
rs256984	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs256986	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs256987	0.93[ASN][1000 genomes]
rs256988	0.94[ASN][1000 genomes]
rs256991	0.94[ASN][1000 genomes]
rs256993	0.94[ASN][1000 genomes]
rs256994	0.81[ASN][1000 genomes]
rs256996	0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs256997	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs256998	0.93[ASN][1000 genomes]
rs387718	0.81[ASN][1000 genomes]
rs415577	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs419939	0.84[CHB][hapmap]
rs698367	0.82[CEU][hapmap]
rs813761	0.82[JPT][hapmap]

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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114889400-114895600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:114891200-114895600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:114892400-114895800	Enhancers	HUVEC	blood vessel
4	chr5:114892600-114897200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:114892800-114896200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:114893200-114896000	Enhancers	Osteobl	bone
7	chr5:114893600-114896200	Enhancers	NH-A	brain
8	chr5:114893600-114896600	Enhancers	HSMM	muscle
9	chr5:114893600-114896600	Enhancers	NHDF-Ad	bronchial
10	chr5:114893800-114897200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:114894000-114895600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr5:114894000-114897000	Weak transcription	Placenta	Placenta
13	chr5:114894000-114907200	Weak transcription	Pancreas	Pancrea
14	chr5:114894400-114895600	Weak transcription	NHLF	lung
15	chr5:114894600-114895800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:114894600-114895800	Weak transcription	HMEC	breast
17	chr5:114894600-114896000	Weak transcription	NHEK	skin
18	chr5:114894600-114907000	Weak transcription	Psoas Muscle	Psoas
19	chr5:114894600-114908800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:114895000-114896600	Enhancers	HSMMtube	muscle
21	chr5:114895200-114896200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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