Variant report

Variant	rs291819
Chromosome Location	chr5:96751537-96751538
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:57)

rs_ID	r²[population]
rs10041189	0.80[ASN][1000 genomes]
rs10044469	0.84[ASN][1000 genomes]
rs10055987	0.88[ASN][1000 genomes]
rs10060043	0.86[ASN][1000 genomes]
rs10063725	0.83[ASN][1000 genomes]
rs10074671	0.83[ASN][1000 genomes]
rs10077749	0.85[ASN][1000 genomes]
rs11135510	0.83[ASN][1000 genomes]
rs11135512	0.84[ASN][1000 genomes]
rs11135514	0.90[ASN][1000 genomes]
rs1113563	0.83[ASN][1000 genomes]
rs11741545	0.90[ASN][1000 genomes]
rs11744867	0.80[ASN][1000 genomes]
rs11747458	0.84[ASN][1000 genomes]
rs12517149	0.87[ASN][1000 genomes]
rs12521282	0.80[ASN][1000 genomes]
rs13186882	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13357559	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs146689	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1485454	0.88[ASN][1000 genomes]
rs1485459	0.88[ASN][1000 genomes]
rs1485469	0.90[ASN][1000 genomes]
rs17087524	0.88[ASN][1000 genomes]
rs1825534	0.88[ASN][1000 genomes]
rs188344	0.85[ASN][1000 genomes]
rs2132225	0.80[ASN][1000 genomes]
rs2220200	0.84[ASN][1000 genomes]
rs28842623	0.86[ASN][1000 genomes]
rs291817	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291823	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4291040	0.88[ASN][1000 genomes]
rs4362964	0.80[ASN][1000 genomes]
rs4395658	0.80[ASN][1000 genomes]
rs4574572	0.88[ASN][1000 genomes]
rs4869359	0.88[ASN][1000 genomes]
rs56050592	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6556978	0.81[ASN][1000 genomes]
rs66469149	0.88[ASN][1000 genomes]
rs6859739	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6865811	0.86[ASN][1000 genomes]
rs6871255	0.84[ASN][1000 genomes]
rs6874909	0.90[ASN][1000 genomes]
rs6885295	0.85[ASN][1000 genomes]
rs6891107	0.82[ASN][1000 genomes]
rs6891837	0.86[ASN][1000 genomes]
rs6893895	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6895915	0.82[ASN][1000 genomes]
rs6898761	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72779902	0.84[ASN][1000 genomes]
rs72781909	0.89[ASN][1000 genomes]
rs7718035	0.83[ASN][1000 genomes]
rs7721830	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7721857	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs923107	0.88[ASN][1000 genomes]
rs923108	0.88[ASN][1000 genomes]
rs9314208	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs971865	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS 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	49 gene(s)	inside rSNPs	diseases
2	nsv1019790	chr5:96471680-96980633	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv537812	chr5:96471680-96980633	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv534326	chr5:96531217-97283481	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv882394	chr5:96538585-97108559	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1032548	chr5:96565121-97046804	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv537813	chr5:96565121-97046804	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv830415	chr5:96597763-96764157	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1025654	chr5:96613448-96817528	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1025345	chr5:96747650-96777286	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96745600-96753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:96749800-96751800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:96750600-96753400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:96750600-96753400	Weak transcription	GM12878-XiMat	blood
5	chr5:96751000-96753600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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