Variant report

Variant	rs171252
Chromosome Location	chr5:119351703-119351704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10063346	0.83[EUR][1000 genomes]
rs12513439	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12513455	0.82[EUR][1000 genomes]
rs12513497	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12517820	0.82[EUR][1000 genomes]
rs12518548	0.82[EUR][1000 genomes]
rs12522934	0.81[EUR][1000 genomes]
rs12719270	0.85[EUR][1000 genomes]
rs12719271	0.85[EUR][1000 genomes]
rs13163408	0.83[EUR][1000 genomes]
rs1348476	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1443976	0.84[EUR][1000 genomes]
rs1443977	0.84[EUR][1000 genomes]
rs1811296	0.85[EUR][1000 genomes]
rs1811298	0.81[EUR][1000 genomes]
rs1907200	0.82[EUR][1000 genomes]
rs1907201	0.83[EUR][1000 genomes]
rs1907202	0.83[EUR][1000 genomes]
rs1907203	0.82[EUR][1000 genomes]
rs1948324	0.84[EUR][1000 genomes]
rs1948325	0.84[EUR][1000 genomes]
rs255806	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255807	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255809	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36024865	0.82[EUR][1000 genomes]
rs4073708	0.82[ASN][1000 genomes]
rs4080163	0.85[EUR][1000 genomes]
rs4410670	0.83[EUR][1000 genomes]
rs4526135	0.83[EUR][1000 genomes]
rs4643984	0.83[EUR][1000 genomes]
rs4645354	0.83[EUR][1000 genomes]
rs4895139	0.84[EUR][1000 genomes]
rs4895140	0.84[EUR][1000 genomes]
rs4895141	0.84[EUR][1000 genomes]
rs4895142	0.84[EUR][1000 genomes]
rs4895215	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4895222	0.82[EUR][1000 genomes]
rs4895224	0.81[EUR][1000 genomes]
rs4895225	0.82[EUR][1000 genomes]
rs4895226	0.82[EUR][1000 genomes]
rs4895227	0.81[EUR][1000 genomes]
rs5002560	0.82[EUR][1000 genomes]
rs5002562	0.82[EUR][1000 genomes]
rs5002563	0.84[EUR][1000 genomes]
rs5002564	0.84[EUR][1000 genomes]
rs6595205	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6865527	0.84[EUR][1000 genomes]
rs6865534	0.83[EUR][1000 genomes]
rs6865540	0.83[EUR][1000 genomes]
rs6866001	0.83[EUR][1000 genomes]
rs6873107	0.82[ASN][1000 genomes]
rs6877784	0.82[EUR][1000 genomes]
rs6883773	0.83[EUR][1000 genomes]
rs6886798	0.83[EUR][1000 genomes]
rs6887845	0.83[EUR][1000 genomes]
rs6888189	0.83[EUR][1000 genomes]
rs7718194	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7718340	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs902503	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs918468	0.85[EUR][1000 genomes]
rs931452	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs931453	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs978445	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv882778	chr5:118972113-119384039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv599568	chr5:119199265-119414589	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1023146	chr5:119301891-119623417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv537883	chr5:119301891-119623417	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3331559	chr5:119306944-119536554	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	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
9	nsv882780	chr5:119332670-119488924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119346000-119352400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:119350600-119352800	Weak transcription	HSMMtube	muscle

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