Variant report

Variant	rs9850465
Chromosome Location	chr3:49860678-49860679
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr3:49860595-49860940	HepG2	liver:	n/a	chr3:49860759-49860774
2	MAFF	chr3:49860615-49860933	HepG2	liver:	n/a	n/a
3	MAFK	chr3:49860662-49860916	HepG2	liver:	n/a	chr3:49860759-49860774
4	MAFK	chr3:49860601-49860946	IMR90	lung:	n/a	chr3:49860759-49860774

Variant related genes	Relation type
ENSG00000263651	TF binding region

Extended variants
information (count: 102 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10049413	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1049256	0.86[ASN][1000 genomes]
rs10865958	0.93[ASN][1000 genomes]
rs10865959	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130214	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130216	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130218	0.84[ASN][1000 genomes]
rs11130219	0.84[ASN][1000 genomes]
rs11130221	0.86[ASN][1000 genomes]
rs1128535	0.93[ASN][1000 genomes]
rs11709680	0.84[ASN][1000 genomes]
rs11710675	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11714957	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11715304	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11716575	0.84[ASN][1000 genomes]
rs11717256	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11717463	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11920900	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12381242	0.84[ASN][1000 genomes]
rs12490656	0.86[ASN][1000 genomes]
rs12496226	0.82[EUR][1000 genomes]
rs13063621	0.86[ASN][1000 genomes]
rs13084243	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13085679	0.93[ASN][1000 genomes]
rs13086130	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13086465	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13090611	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1317140	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13316065	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1491986	0.84[ASN][1000 genomes]
rs1799843	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1799845	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2234385	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2234391	0.90[ASN][1000 genomes]
rs2246832	0.90[ASN][1000 genomes]
rs2247036	0.90[ASN][1000 genomes]
rs2271960	0.90[ASN][1000 genomes]
rs2271961	0.90[ASN][1000 genomes]
rs2276864	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291542	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2307021	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2352967	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2352974	0.90[ASN][1000 genomes]
rs2352975	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34451146	0.86[ASN][1000 genomes]
rs34522271	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34614773	0.84[ASN][1000 genomes]
rs34735338	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35210174	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35261599	0.88[ASN][1000 genomes]
rs35474403	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3749237	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3749240	0.86[ASN][1000 genomes]
rs3749241	0.86[ASN][1000 genomes]
rs3811695	0.82[ASN][1000 genomes]
rs3811696	0.84[ASN][1000 genomes]
rs3819325	0.94[ASN][1000 genomes]
rs4519692	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4855841	0.81[ASN][1000 genomes]
rs4855850	0.83[ASN][1000 genomes]
rs4855862	0.84[ASN][1000 genomes]
rs4855867	0.84[ASN][1000 genomes]
rs57648519	0.86[ASN][1000 genomes]
rs59906301	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60205400	0.86[ASN][1000 genomes]
rs62260715	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62260719	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62260729	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6446295	0.88[ASN][1000 genomes]
rs6766836	0.86[ASN][1000 genomes]
rs6775384	0.93[ASN][1000 genomes]
rs6785549	0.81[ASN][1000 genomes]
rs6802890	0.86[ASN][1000 genomes]
rs6804655	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs695238	0.93[ASN][1000 genomes]
rs71324996	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7372730	0.82[ASN][1000 genomes]
rs7431078	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7431106	0.86[ASN][1000 genomes]
rs7618501	0.87[ASN][1000 genomes]
rs7618519	0.88[ASN][1000 genomes]
rs7629936	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7634886	0.88[ASN][1000 genomes]
rs7634902	0.86[ASN][1000 genomes]
rs7645061	0.93[ASN][1000 genomes]
rs7648987	0.93[ASN][1000 genomes]
rs7649348	0.88[ASN][1000 genomes]
rs9814765	0.83[ASN][1000 genomes]
rs9815766	0.86[ASN][1000 genomes]
rs9819511	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9853458	0.83[ASN][1000 genomes]
rs9859153	0.86[ASN][1000 genomes]
rs9865480	0.83[ASN][1000 genomes]
rs9871654	0.85[ASN][1000 genomes]
rs9876508	0.88[ASN][1000 genomes]
rs9882639	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1809827	chr3:49812331-49934179	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv967270	chr3:49845381-49870409	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9850465	RBM6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49843400-49866400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:49851800-49866000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:49852000-49864800	Weak transcription	Fetal Thymus	thymus
4	chr3:49852000-49865200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:49852000-49866200	Weak transcription	Thymus	Thymus
6	chr3:49852400-49866000	Weak transcription	GM12878-XiMat	blood
7	chr3:49856200-49866200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:49857200-49865000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:49857600-49865600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49857800-49865000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:49858400-49865800	Weak transcription	Esophagus	oesophagus
12	chr3:49859400-49866200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:49859600-49865000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:49859800-49865000	Weak transcription	Dnd41	blood
15	chr3:49860200-49864800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:49860400-49865000	Weak transcription	Fetal Stomach	stomach
17	chr3:49860600-49865000	Weak transcription	Fetal Muscle Leg	muscle

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