Variant report

Variant	rs4742823
Chromosome Location	chr9:104441772-104441773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104441179..104443367-chr9:104448568..104451134,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10113872	0.82[EUR][1000 genomes]
rs10125732	0.83[EUR][1000 genomes]
rs10125758	0.83[EUR][1000 genomes]
rs10512285	0.82[EUR][1000 genomes]
rs10760800	0.81[EUR][1000 genomes]
rs10819965	0.82[EUR][1000 genomes]
rs10819967	0.82[EUR][1000 genomes]
rs10819968	0.82[EUR][1000 genomes]
rs10819969	0.82[EUR][1000 genomes]
rs10819970	0.82[EUR][1000 genomes]
rs10819971	0.82[EUR][1000 genomes]
rs10819972	0.82[EUR][1000 genomes]
rs10819976	0.82[EUR][1000 genomes]
rs10989588	0.82[EUR][1000 genomes]
rs10989589	0.82[EUR][1000 genomes]
rs11790837	0.83[EUR][1000 genomes]
rs11793339	0.83[EUR][1000 genomes]
rs11793342	0.83[EUR][1000 genomes]
rs11794720	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12348469	0.82[EUR][1000 genomes]
rs12377563	0.82[EUR][1000 genomes]
rs1323411	0.82[EUR][1000 genomes]
rs1323412	0.82[EUR][1000 genomes]
rs1323414	0.82[EUR][1000 genomes]
rs1323415	0.82[EUR][1000 genomes]
rs1323416	0.82[EUR][1000 genomes]
rs1323417	0.82[EUR][1000 genomes]
rs1323418	0.82[EUR][1000 genomes]
rs1323429	0.82[ASN][1000 genomes]
rs1323430	0.82[ASN][1000 genomes]
rs1323434	0.82[EUR][1000 genomes]
rs1323435	0.82[EUR][1000 genomes]
rs1323436	0.82[EUR][1000 genomes]
rs13285879	0.83[EUR][1000 genomes]
rs13298935	0.82[EUR][1000 genomes]
rs1337680	0.82[ASN][1000 genomes]
rs1337709	0.83[ASN][1000 genomes]
rs1535631	0.82[EUR][1000 genomes]
rs1572560	0.83[ASN][1000 genomes]
rs1572561	0.83[ASN][1000 genomes]
rs1572562	0.83[ASN][1000 genomes]
rs1885978	0.82[EUR][1000 genomes]
rs1885980	0.82[EUR][1000 genomes]
rs1924030	0.82[EUR][1000 genomes]
rs1924031	0.82[EUR][1000 genomes]
rs1977723	0.82[ASN][1000 genomes]
rs2025333	0.80[EUR][1000 genomes]
rs2025334	0.82[EUR][1000 genomes]
rs2025335	0.82[EUR][1000 genomes]
rs2067056	0.87[MEX][hapmap]
rs2146799	0.82[EUR][1000 genomes]
rs2146800	0.82[EUR][1000 genomes]
rs2146801	0.82[EUR][1000 genomes]
rs2152867	0.83[ASN][1000 genomes]
rs2152868	0.82[ASN][1000 genomes]
rs2181560	0.82[EUR][1000 genomes]
rs2209064	0.82[EUR][1000 genomes]
rs2224766	0.82[EUR][1000 genomes]
rs2256856	0.82[ASN][1000 genomes]
rs2417286	0.82[EUR][1000 genomes]
rs2417287	0.81[EUR][1000 genomes]
rs2417288	0.82[EUR][1000 genomes]
rs2417289	0.82[EUR][1000 genomes]
rs2485523	0.82[ASN][1000 genomes]
rs2485531	0.83[ASN][1000 genomes]
rs2485536	0.83[ASN][1000 genomes]
rs2485537	0.83[ASN][1000 genomes]
rs2506349	0.82[ASN][1000 genomes]
rs2506352	0.83[ASN][1000 genomes]
rs2506354	0.83[ASN][1000 genomes]
rs2506357	0.82[ASN][1000 genomes]
rs2506359	0.81[ASN][1000 genomes]
rs4568659	0.82[EUR][1000 genomes]
rs766551	0.82[EUR][1000 genomes]
rs7862148	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs942142	0.82[EUR][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	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv949579	chr9:104229820-104512923	Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv831672	chr9:104300755-104480849	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv1003325	chr9:104441313-104447221	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4742823	C9orf125	cis	cerebellum	SCAN
rs4742823	GALNT12	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104440000-104441800	Enhancers	Fetal Heart	heart
2	chr9:104441400-104441800	Enhancers	Fetal Lung	lung

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