Variant report

Variant	rs13160383
Chromosome Location	chr5:75409553-75409554
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10038280	0.80[EUR][1000 genomes]
rs10038757	0.84[ASN][1000 genomes]
rs10043369	0.90[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10050813	0.84[ASN][1000 genomes]
rs10051950	0.94[CEU][hapmap];0.86[JPT][hapmap]
rs10054931	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10060618	0.94[CEU][hapmap]
rs10063621	0.94[CEU][hapmap];0.82[CHD][hapmap];0.81[EUR][1000 genomes]
rs10064145	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10065114	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10067484	0.94[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs10074384	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs10474460	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12659929	0.96[ASN][1000 genomes]
rs12697846	0.87[CEU][hapmap]
rs17673786	0.94[CEU][hapmap];0.80[CHD][hapmap];0.82[EUR][1000 genomes]
rs17746749	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs1862520	0.94[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6453199	0.88[CEU][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7356555	0.80[EUR][1000 genomes]
rs7448740	0.81[ASN][1000 genomes]
rs767590	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7700761	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs7702044	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs7711218	0.82[EUR][1000 genomes]
rs7712198	0.88[CEU][hapmap];0.93[CHD][hapmap];0.84[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7725280	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs9293665	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.87[JPT][hapmap]
rs9293666	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9293667	0.94[CEU][hapmap];0.82[EUR][1000 genomes];0.81[ASN][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
rs13160383	COL4A3BP	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75407800-75409800	Weak transcription	HUVEC	blood vessel
2	chr5:75408200-75409800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:75408200-75410600	Enhancers	Gastric	stomach
4	chr5:75408400-75409800	Weak transcription	Lung	lung
5	chr5:75408600-75409800	Weak transcription	Left Ventricle	heart
6	chr5:75409200-75409800	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr5:75409400-75409800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr5:75409400-75410000	Flanking Active TSS	Stomach Mucosa	stomach
9	chr5:75409400-75411400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:75409400-75412200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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