Variant report

Variant	rs12700002
Chromosome Location	chr7:18905450-18905451
allele	C/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:31)

rs_ID	r²[population]
rs10230371	0.82[AMR][1000 genomes]
rs10237149	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10237280	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10237366	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10270210	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10486314	0.80[EUR][1000 genomes]
rs12530943	0.97[ASN][1000 genomes]
rs12536081	0.81[AMR][1000 genomes]
rs12699998	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12699999	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12700001	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12700003	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13233322	0.80[EUR][1000 genomes]
rs13242758	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13245206	0.83[ASN][1000 genomes]
rs2249817	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34854568	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55761404	0.83[AMR][1000 genomes]
rs59987684	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6461387	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6461389	0.99[ASN][1000 genomes]
rs6461390	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461391	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461392	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6461393	0.97[ASN][1000 genomes]
rs6461394	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6951144	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6951745	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973029	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs756854	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7801037	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498112	chr7:18677922-18991946	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv887813	chr7:18720135-18995552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv523497	chr7:18896011-18959381	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18901600-18905600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:18901600-18905800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:18901800-18905600	Weak transcription	Osteobl	bone
4	chr7:18903000-18940000	Weak transcription	Aorta	Aorta
5	chr7:18903800-18907400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:18904600-18906000	Enhancers	Right Atrium	heart
7	chr7:18904800-18907000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:18904800-18907400	Enhancers	Adipose Nuclei	Adipose
9	chr7:18905000-18907000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:18905200-18907000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:18905200-18908000	Enhancers	NHDF-Ad	bronchial

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