Variant report

Variant	rs387718
Chromosome Location	chr5:114925960-114925961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114925661..114928163-chr5:114931271..114933009,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs171773	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs171774	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs173965	0.82[ASN][1000 genomes]
rs173966	0.83[ASN][1000 genomes]
rs187682	0.91[ASN][1000 genomes]
rs2546487	0.84[ASN][1000 genomes]
rs2559990	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256941	0.90[EUR][1000 genomes]
rs256943	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256944	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs256945	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs256956	0.82[ASN][1000 genomes]
rs256959	0.88[ASN][1000 genomes]
rs256962	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs256964	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs256967	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs256968	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256969	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs256970	0.82[ASN][1000 genomes]
rs256971	0.81[ASN][1000 genomes]
rs256972	0.81[ASN][1000 genomes]
rs256976	0.89[ASN][1000 genomes]
rs256980	0.93[ASN][1000 genomes]
rs256984	0.83[ASN][1000 genomes]
rs256986	0.82[ASN][1000 genomes]
rs256987	0.85[ASN][1000 genomes]
rs256988	0.85[ASN][1000 genomes]
rs256991	0.85[ASN][1000 genomes]
rs256993	0.85[ASN][1000 genomes]
rs256994	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256996	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256997	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs256998	0.88[ASN][1000 genomes]
rs415577	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs416234	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs424434	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs428191	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs712550	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs712551	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs790824	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs813761	0.86[ASN][1000 genomes]
rs9326969	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114910400-114929400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:114911200-114935600	Weak transcription	Gastric	stomach
3	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
4	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:114919400-114930000	Weak transcription	HSMM	muscle
7	chr5:114919800-114935600	Weak transcription	NH-A	brain
8	chr5:114920000-114929400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:114920000-114929600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:114920400-114929600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:114920600-114929600	Weak transcription	Osteobl	bone
12	chr5:114921600-114930000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:114921600-114935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:114921600-114935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:114922800-114929600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:114922800-114929600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:114922800-114930400	Weak transcription	NHLF	lung
18	chr5:114923200-114929400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:114923800-114926400	Weak transcription	Right Atrium	heart
20	chr5:114924400-114926800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr5:114925000-114929400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:114925000-114930400	Weak transcription	Psoas Muscle	Psoas
23	chr5:114925000-114934000	Weak transcription	GM12878-XiMat	blood
24	chr5:114925000-114935200	Weak transcription	Left Ventricle	heart
25	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
26	chr5:114925400-114930600	Weak transcription	Fetal Brain Female	brain
27	chr5:114925600-114929400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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