Variant report

Variant	rs3009968
Chromosome Location	chr1:45639768-45639769
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	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10789454	0.85[EUR][1000 genomes]
rs11211074	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1144868	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806438	0.98[ASN][1000 genomes]
rs11810239	0.97[ASN][1000 genomes]
rs1226670	0.98[ASN][1000 genomes]
rs1226733	0.97[ASN][1000 genomes]
rs1226734	0.97[ASN][1000 genomes]
rs1226735	0.82[ASN][1000 genomes]
rs1226746	0.98[ASN][1000 genomes]
rs1226747	0.98[ASN][1000 genomes]
rs1226748	0.98[ASN][1000 genomes]
rs1226836	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1226914	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1782459	0.95[ASN][1000 genomes]
rs1938300	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938301	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938303	0.98[ASN][1000 genomes]
rs1938304	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938407	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2088956	0.97[ASN][1000 genomes]
rs2105458	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186219	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2356302	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs238249	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2997458	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2997461	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2997465	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3009969	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3009974	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3009979	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3121732	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3121769	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34134455	0.98[ASN][1000 genomes]
rs346684	0.98[ASN][1000 genomes]
rs346687	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346693	0.98[ASN][1000 genomes]
rs346695	0.98[ASN][1000 genomes]
rs346696	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346697	0.98[ASN][1000 genomes]
rs346698	0.98[ASN][1000 genomes]
rs346700	0.98[ASN][1000 genomes]
rs346701	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346702	0.98[ASN][1000 genomes]
rs346705	0.98[ASN][1000 genomes]
rs346706	0.98[ASN][1000 genomes]
rs346707	0.98[ASN][1000 genomes]
rs346708	0.91[ASN][1000 genomes]
rs346712	0.98[ASN][1000 genomes]
rs346716	0.98[ASN][1000 genomes]
rs346717	0.98[ASN][1000 genomes]
rs346719	0.98[ASN][1000 genomes]
rs346721	0.98[ASN][1000 genomes]
rs346723	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs346724	0.98[ASN][1000 genomes]
rs346729	0.98[ASN][1000 genomes]
rs346731	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs346732	0.98[ASN][1000 genomes]
rs346733	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346734	0.98[ASN][1000 genomes]
rs346735	0.98[ASN][1000 genomes]
rs346736	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346737	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3738246	0.97[ASN][1000 genomes]
rs3850855	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3850856	0.98[ASN][1000 genomes]
rs415536	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4454584	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs454624	0.98[ASN][1000 genomes]
rs4660295	0.98[ASN][1000 genomes]
rs4660834	0.97[ASN][1000 genomes]
rs4660839	0.98[ASN][1000 genomes]
rs4660841	0.98[ASN][1000 genomes]
rs56363452	0.98[ASN][1000 genomes]
rs56791336	0.98[ASN][1000 genomes]
rs58374842	0.98[ASN][1000 genomes]
rs58934647	0.98[ASN][1000 genomes]
rs59220391	0.89[ASN][1000 genomes]
rs61789780	0.98[ASN][1000 genomes]
rs61789781	0.98[ASN][1000 genomes]
rs6429557	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6688318	0.97[ASN][1000 genomes]
rs6702327	0.97[ASN][1000 genomes]
rs72684493	0.98[ASN][1000 genomes]
rs974143	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv947110	chr1:45627447-45642615	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv9846	chr1:45634577-45645451	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2760743	chr1:45634781-45641788	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv546149	chr1:45635802-45641737	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv546150	chr1:45635802-45643039	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv546151	chr1:45635802-45643619	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv546152	chr1:45635802-45645069	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv546153	chr1:45635802-45645097	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv546154	chr1:45635995-45645097	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv546155	chr1:45638470-45642425	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv546156	chr1:45638486-45645097	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3009968	MUTYH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45635600-45642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45638600-45640000	Enhancers	HepG2	liver
3	chr1:45638600-45642400	Weak transcription	Hela-S3	cervix
4	chr1:45638600-45643600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:45638800-45639800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:45639000-45642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:45639000-45644800	Weak transcription	A549	lung
8	chr1:45639000-45645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:45639600-45640000	Enhancers	Pancreas	Pancrea

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