Variant report

Variant	rs11139554
Chromosome Location	chr9:84997130-84997131
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10117890	0.87[ASN][1000 genomes]
rs10123309	0.87[ASN][1000 genomes]
rs10867839	0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10867840	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10867844	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11139538	0.89[ASN][1000 genomes]
rs11139564	0.83[EUR][1000 genomes]
rs11139569	0.86[CEU][hapmap]
rs11794308	0.87[ASN][1000 genomes]
rs1330834	0.91[ASN][1000 genomes]
rs1411668	0.92[ASN][1000 genomes]
rs1888327	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1890344	0.88[ASN][1000 genomes]
rs1929097	0.83[ASN][1000 genomes]
rs1933577	0.83[ASN][1000 genomes]
rs1933580	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1933582	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1933583	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1933584	0.91[ASN][1000 genomes]
rs1933586	0.91[ASN][1000 genomes]
rs2378631	0.82[EUR][1000 genomes]
rs2788106	0.90[ASN][1000 genomes]
rs2788107	0.90[ASN][1000 genomes]
rs2788110	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2788112	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2993516	0.91[ASN][1000 genomes]
rs35064221	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4263847	0.90[ASN][1000 genomes]
rs4276765	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4338186	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4465043	0.82[EUR][1000 genomes]
rs4563967	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4877229	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4877231	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4877691	0.92[ASN][1000 genomes]
rs6559659	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7020546	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7021352	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7047870	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7048952	0.81[EUR][1000 genomes]
rs7848262	0.92[ASN][1000 genomes]
rs7848263	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7848823	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7849168	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7852603	0.93[ASN][1000 genomes]
rs7854052	0.80[CEU][hapmap]
rs7857885	0.83[ASN][1000 genomes]
rs7859164	0.90[ASN][1000 genomes]
rs7859493	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893507	chr9:84799537-85097651	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893508	chr9:84954592-85080395	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv893509	chr9:84954592-85097651	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893510	chr9:84954592-85117420	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11139554	C9orf64	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:84994000-84997200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:84996800-84997600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:84997000-84997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:84997000-84997600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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