Variant report

Variant	rs768946
Chromosome Location	chr5:114738081-114738082
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12652178	0.94[YRI][hapmap]
rs12654199	0.85[YRI][hapmap]
rs12654224	0.81[YRI][hapmap]
rs2591250	0.87[YRI][hapmap]
rs2591251	0.81[YRI][hapmap]
rs2591252	0.92[YRI][hapmap]
rs2591254	0.81[YRI][hapmap]
rs2605186	0.86[YRI][hapmap]
rs2605188	0.86[YRI][hapmap]
rs2605189	0.86[YRI][hapmap]
rs2605191	0.86[YRI][hapmap]
rs2964548	0.86[YRI][hapmap]
rs61529300	1.00[AMR][1000 genomes]
rs61741404	1.00[AMR][1000 genomes]
rs6865555	0.86[YRI][hapmap]
rs73780309	1.00[AMR][1000 genomes]
rs73780317	1.00[AMR][1000 genomes]
rs73780389	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3471333	chr5:114731598-114739727	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3520590	chr5:114731610-114739722	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3471334	chr5:114731612-114739723	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3520591	chr5:114731612-114739723	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114735000-114738200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:114737400-114738200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:114737600-114738600	Enhancers	Adipose Nuclei	Adipose
4	chr5:114737600-114739200	Enhancers	NHLF	lung
5	chr5:114737800-114738200	Enhancers	Fetal Muscle Trunk	muscle
6	chr5:114737800-114738200	Enhancers	Right Ventricle	heart
7	chr5:114737800-114738600	Enhancers	Right Atrium	heart
8	chr5:114737800-114739400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:114737800-114739400	Enhancers	NHDF-Ad	bronchial
10	chr5:114737800-114739800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:114738000-114738200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:114738000-114738200	Enhancers	NH-A	brain
13	chr5:114738000-114738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:114738000-114738400	Enhancers	Osteobl	bone
15	chr5:114738000-114738600	Enhancers	Lung	lung
16	chr5:114738000-114738600	Enhancers	Ovary	ovary
17	chr5:114738000-114738800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:114738000-114739200	Enhancers	HSMM	muscle
19	chr5:114738000-114739400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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