Variant report

Variant	rs7712847
Chromosome Location	chr5:119818220-119818221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10035683	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10052263	0.87[AFR][1000 genomes]
rs10052315	1.00[ASN][1000 genomes]
rs10052334	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10064623	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065330	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10213989	0.82[AFR][1000 genomes]
rs10214171	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10477605	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478471	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478472	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478473	0.84[AFR][1000 genomes]
rs10478474	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11949016	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957506	1.00[ASN][1000 genomes]
rs11958925	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960555	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109423	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356306	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13356782	1.00[ASN][1000 genomes]
rs13357191	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13359288	1.00[ASN][1000 genomes]
rs13359350	1.00[ASN][1000 genomes]
rs13360299	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13361121	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13362523	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454982	0.87[AFR][1000 genomes]
rs2601210	0.91[AFR][1000 genomes]
rs2601211	0.84[AFR][1000 genomes]
rs2604163	0.88[AFR][1000 genomes]
rs2604164	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2604165	0.91[AFR][1000 genomes]
rs2655066	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2655067	0.89[AFR][1000 genomes]
rs2655069	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2691097	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2691100	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs300956	0.85[AFR][1000 genomes]
rs4476747	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895159	1.00[ASN][1000 genomes]
rs4895160	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895257	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895258	1.00[ASN][1000 genomes]
rs4895259	1.00[ASN][1000 genomes]
rs6595236	1.00[ASN][1000 genomes]
rs6595239	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6865123	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6871554	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882134	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6892665	0.90[AFR][1000 genomes]
rs73264200	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73266107	1.00[ASN][1000 genomes]
rs7448156	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7706025	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710004	0.84[AFR][1000 genomes]
rs7710626	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710848	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7710928	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728098	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733397	1.00[ASN][1000 genomes]
rs7733602	0.87[AFR][1000 genomes]
rs9327144	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9327145	0.82[AFR][1000 genomes]
rs9327146	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9687538	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119808600-119835800	Weak transcription	HSMM	muscle
2	chr5:119812000-119826800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119812200-119840000	Weak transcription	Fetal Lung	lung
4	chr5:119816200-119819600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:119816400-119835400	Weak transcription	Osteobl	bone
6	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:119817000-119818600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:119818000-119818600	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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