Variant report

Variant	rs10275030
Chromosome Location	chr7:19130599-19130600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10224508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10227338	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227439	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229075	1.00[EUR][1000 genomes]
rs10240640	1.00[ASN][1000 genomes]
rs10244882	0.96[EUR][1000 genomes]
rs10251015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10252615	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256776	1.00[EUR][1000 genomes]
rs10265255	0.96[EUR][1000 genomes]
rs10266725	1.00[ASN][1000 genomes]
rs10270859	1.00[EUR][1000 genomes]
rs10275229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548576	1.00[EUR][1000 genomes]
rs17140565	1.00[ASN][1000 genomes]
rs17423728	1.00[ASN][1000 genomes]
rs2078978	1.00[EUR][1000 genomes]
rs2214627	1.00[EUR][1000 genomes]
rs2263233	1.00[EUR][1000 genomes]
rs2521720	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2521722	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2521723	0.87[EUR][1000 genomes]
rs2521734	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2521735	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2521737	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717340	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717361	0.93[EUR][1000 genomes]
rs2717362	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717364	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717365	1.00[EUR][1000 genomes]
rs28579949	1.00[ASN][1000 genomes]
rs28611415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28627595	1.00[ASN][1000 genomes]
rs28720702	1.00[ASN][1000 genomes]
rs2892913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905456	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905459	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906045	0.96[EUR][1000 genomes]
rs2965021	0.96[EUR][1000 genomes]
rs2965030	1.00[EUR][1000 genomes]
rs429	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383884	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60301616	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60744788	1.00[EUR][1000 genomes]
rs6953130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6960648	1.00[ASN][1000 genomes]
rs6964820	1.00[ASN][1000 genomes]
rs6965235	1.00[ASN][1000 genomes]
rs6971603	0.96[EUR][1000 genomes]
rs6973803	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73314876	1.00[EUR][1000 genomes]
rs73323561	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776577	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs886227	1.00[EUR][1000 genomes]
rs9655162	1.00[EUR][1000 genomes]
rs975893	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531020	chr7:18971153-19261019	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032503	chr7:19092460-19134995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1032126	chr7:19092460-19137228	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2761116	chr7:19092472-19136307	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv532096	chr7:19094324-19361216	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv519024	chr7:19103926-19134119	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv532097	chr7:19105767-19302951	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19119000-19134200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:19119200-19146000	Weak transcription	HSMM	muscle
3	chr7:19126800-19136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:19129200-19131600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:19130000-19130800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:19130400-19131000	Flanking Active TSS	NHDF-Ad	bronchial

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