Variant report

Variant	rs256944
Chromosome Location	chr5:114929662-114929663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10055677	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs12187973	0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs13164545	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs13186296	0.91[EUR][1000 genomes]
rs171774	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs173965	0.94[ASN][1000 genomes]
rs173966	0.95[ASN][1000 genomes]
rs2169771	0.81[ASN][1000 genomes]
rs2303747	0.81[CEU][hapmap];0.87[EUR][1000 genomes]
rs2546486	0.85[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2546487	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs2559990	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs256942	0.84[CEU][hapmap];0.96[EUR][1000 genomes]
rs256943	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs256945	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256947	0.92[EUR][1000 genomes]
rs256948	0.93[EUR][1000 genomes]
rs256949	0.92[EUR][1000 genomes]
rs256950	0.92[EUR][1000 genomes]
rs256951	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs256952	0.92[EUR][1000 genomes]
rs256953	0.92[EUR][1000 genomes]
rs256954	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs256956	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs256959	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs256964	0.88[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256967	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256968	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs256969	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256970	0.94[ASN][1000 genomes]
rs256971	0.93[ASN][1000 genomes]
rs256972	0.93[ASN][1000 genomes]
rs256976	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs256978	0.90[ASN][1000 genomes]
rs256980	0.82[ASN][1000 genomes]
rs256984	0.93[ASN][1000 genomes]
rs256986	0.92[ASN][1000 genomes]
rs256987	0.96[ASN][1000 genomes]
rs256988	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256991	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256993	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256994	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs256996	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs256997	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256998	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377290	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3822579	0.91[EUR][1000 genomes]
rs387718	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs400570	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs413059	0.91[EUR][1000 genomes]
rs415577	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs419939	0.81[CHB][hapmap]
rs4920967	0.90[EUR][1000 genomes]
rs698365	0.84[CEU][hapmap]
rs698366	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs698367	0.89[CEU][hapmap];0.92[EUR][1000 genomes]
rs7702283	0.92[EUR][1000 genomes]
rs7702869	0.92[EUR][1000 genomes]
rs7702881	0.92[EUR][1000 genomes]
rs790825	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs813761	0.82[CHB][hapmap];0.82[JPT][hapmap]

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	chr5:114911200-114935600	Weak transcription	Gastric	stomach
2	chr5:114913000-114935200	Weak transcription	Aorta	Aorta
3	chr5:114914400-114936200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:114914800-114937400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:114919400-114930000	Weak transcription	HSMM	muscle
6	chr5:114919800-114935600	Weak transcription	NH-A	brain
7	chr5:114921600-114930000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:114921600-114935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:114921600-114935400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:114922800-114930400	Weak transcription	NHLF	lung
11	chr5:114925000-114930400	Weak transcription	Psoas Muscle	Psoas
12	chr5:114925000-114934000	Weak transcription	GM12878-XiMat	blood
13	chr5:114925000-114935200	Weak transcription	Left Ventricle	heart
14	chr5:114925000-114937400	Weak transcription	Pancreas	Pancrea
15	chr5:114925400-114930600	Weak transcription	Fetal Brain Female	brain
16	chr5:114926800-114932400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr5:114928000-114930600	Weak transcription	Right Atrium	heart
18	chr5:114929400-114930400	Enhancers	Adipose Nuclei	Adipose
19	chr5:114929400-114930800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:114929400-114931000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:114929400-114931200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:114929400-114931200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr5:114929600-114929800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:114929600-114930600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:114929600-114931000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:114929600-114931600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:114929600-114931600	Enhancers	Osteobl	bone

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