Variant report

Variant	rs30249
Chromosome Location	chr5:75408235-75408236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs13162056	0.91[EUR][1000 genomes]
rs13174796	0.91[EUR][1000 genomes]
rs1393205	0.91[EUR][1000 genomes]
rs1423103	0.80[EUR][1000 genomes]
rs1423104	0.91[EUR][1000 genomes]
rs1501905	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs1553310	0.90[EUR][1000 genomes]
rs183766	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs183767	0.85[JPT][hapmap];0.85[YRI][hapmap]
rs1910051	0.90[EUR][1000 genomes]
rs2547455	0.91[EUR][1000 genomes]
rs2547456	0.90[EUR][1000 genomes]
rs258612	0.92[EUR][1000 genomes]
rs258613	0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs258614	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs258621	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs2731732	0.91[EUR][1000 genomes]
rs2731733	0.84[EUR][1000 genomes]
rs2731735	0.81[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28620	0.97[EUR][1000 genomes]
rs28621	0.81[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2937705	1.00[YRI][hapmap]
rs30191	0.81[CHB][hapmap];0.92[EUR][1000 genomes]
rs30192	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs30196	0.81[CHB][hapmap];0.87[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs30197	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs30198	0.81[CHB][hapmap];0.83[EUR][1000 genomes]
rs30199	0.93[EUR][1000 genomes]
rs30202	0.97[EUR][1000 genomes]
rs30204	0.80[EUR][1000 genomes]
rs30205	0.80[EUR][1000 genomes]
rs30206	0.80[EUR][1000 genomes]
rs7378518	0.89[EUR][1000 genomes]
rs7443455	0.91[EUR][1000 genomes]
rs993914	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv869885	chr5:75365786-75419656	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1033350	chr5:75367809-75538460	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1034853	chr5:75382047-75534981	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv462212	chr5:75388834-75534570	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv598676	chr5:75388834-75534570	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv2755729	chr5:75400467-75429015	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs30249	CTC-235G5.3	cis	Nerve Tibial	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75406600-75409400	Enhancers	Stomach Mucosa	stomach
2	chr5:75407800-75409800	Weak transcription	HUVEC	blood vessel
3	chr5:75408200-75408400	Enhancers	Left Ventricle	heart
4	chr5:75408200-75408400	Enhancers	Lung	lung
5	chr5:75408200-75408400	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr5:75408200-75409800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr5:75408200-75410600	Enhancers	Gastric	stomach

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