Variant report

Variant	rs58767753
Chromosome Location	chr1:186613143-186613144
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10911899	0.90[AFR][1000 genomes]
rs11811047	0.87[AFR][1000 genomes]
rs16825618	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16825639	0.87[AFR][1000 genomes]
rs16825646	0.87[AFR][1000 genomes]
rs1883652	0.87[AFR][1000 genomes]
rs34365031	0.87[AFR][1000 genomes]
rs3851883	1.00[EUR][1000 genomes]
rs3918304	1.00[EUR][1000 genomes]
rs41393449	1.00[EUR][1000 genomes]
rs4511065	0.87[AFR][1000 genomes]
rs4648274	1.00[EUR][1000 genomes]
rs56294639	1.00[EUR][1000 genomes]
rs56693185	1.00[EUR][1000 genomes]
rs57219691	1.00[EUR][1000 genomes]
rs57550992	1.00[EUR][1000 genomes]
rs58362718	1.00[EUR][1000 genomes]
rs61403154	1.00[EUR][1000 genomes]
rs6661312	1.00[EUR][1000 genomes]
rs6672847	1.00[EUR][1000 genomes]
rs6675113	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6702184	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71634178	0.87[AFR][1000 genomes]
rs71634179	0.87[AFR][1000 genomes]
rs74134715	1.00[EUR][1000 genomes]
rs74134721	1.00[EUR][1000 genomes]
rs74134723	1.00[EUR][1000 genomes]
rs7555943	1.00[EUR][1000 genomes]
rs9803769	1.00[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	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186602600-186614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:186612400-186614600	Enhancers	Hela-S3	cervix
3	chr1:186612600-186613200	Enhancers	HMEC	breast
4	chr1:186612600-186613400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:186612600-186613400	Enhancers	A549	lung
6	chr1:186612600-186613400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:186612600-186613600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:186612600-186614400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:186612600-186614400	Enhancers	NHEK	skin
10	chr1:186612800-186613200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:186612800-186613200	Enhancers	NHDF-Ad	bronchial
12	chr1:186612800-186613600	Enhancers	Osteobl	bone
13	chr1:186613000-186613200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:186613000-186613400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:186613000-186613600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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