Variant report

Variant	rs73169331
Chromosome Location	chr5:100438372-100438373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10041629	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10478780	0.82[EUR][1000 genomes]
rs10478781	0.82[EUR][1000 genomes]
rs10478782	0.82[EUR][1000 genomes]
rs10478783	0.82[EUR][1000 genomes]
rs13354882	0.92[EUR][1000 genomes]
rs13360183	0.82[EUR][1000 genomes]
rs13360255	0.82[EUR][1000 genomes]
rs13360295	0.82[EUR][1000 genomes]
rs1398225	0.82[EUR][1000 genomes]
rs17131829	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17131833	0.92[EUR][1000 genomes]
rs17133261	0.82[EUR][1000 genomes]
rs2137295	0.82[EUR][1000 genomes]
rs28450028	0.82[EUR][1000 genomes]
rs35031886	1.00[ASN][1000 genomes]
rs58384525	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859277	1.00[ASN][1000 genomes]
rs6877886	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895082	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6897349	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73169322	0.92[EUR][1000 genomes]
rs73169327	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73169332	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73169333	0.92[EUR][1000 genomes]
rs73777904	0.86[ASN][1000 genomes]
rs73777928	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	esv1834675	chr5:100143084-100535029	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv882472	chr5:100234439-100512338	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv462320	chr5:100247554-100775607	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv599176	chr5:100247554-100775607	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv882473	chr5:100263707-100532885	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv882474	chr5:100263707-100537863	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1023318	chr5:100287947-100492390	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv482721	chr5:100301179-100439072	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1029468	chr5:100344254-100513327	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv882477	chr5:100362071-100577695	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv528811	chr5:100424081-101218087	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2763474	chr5:100433570-100484664	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv981025	chr5:100438355-100459026	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100436400-100438400	Enhancers	A549	lung
2	chr5:100437600-100438400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:100437600-100438600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:100437800-100441600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100438200-100438600	Enhancers	NHEK	skin

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