Variant report

Variant	rs374743
Chromosome Location	chr2:32494190-32494191
allele	G/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	chr2:32494156-32494333	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
NLRC4	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11124276	0.83[EUR][1000 genomes]
rs11124277	0.83[EUR][1000 genomes]
rs11681731	0.86[EUR][1000 genomes]
rs11686061	0.83[EUR][1000 genomes]
rs12474443	0.82[EUR][1000 genomes]
rs12617289	0.86[EUR][1000 genomes]
rs12617290	0.85[EUR][1000 genomes]
rs1265340	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1265341	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13022197	0.86[EUR][1000 genomes]
rs212678	0.85[EUR][1000 genomes]
rs212679	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs212695	0.84[EUR][1000 genomes]
rs212699	0.81[EUR][1000 genomes]
rs212701	0.81[EUR][1000 genomes]
rs212715	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs212716	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212717	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs212718	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs212722	0.85[EUR][1000 genomes]
rs212723	0.87[EUR][1000 genomes]
rs212724	0.89[EUR][1000 genomes]
rs212725	0.89[EUR][1000 genomes]
rs212726	0.89[EUR][1000 genomes]
rs212727	0.89[EUR][1000 genomes]
rs212728	0.89[EUR][1000 genomes]
rs212730	0.89[EUR][1000 genomes]
rs212731	0.89[EUR][1000 genomes]
rs212733	0.86[EUR][1000 genomes]
rs212735	0.89[EUR][1000 genomes]
rs212737	0.89[EUR][1000 genomes]
rs212739	0.89[EUR][1000 genomes]
rs212745	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs212746	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs212760	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2235134	0.86[EUR][1000 genomes]
rs2365558	0.85[EUR][1000 genomes]
rs2566483	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769604	0.82[EUR][1000 genomes]
rs385076	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs408813	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs428002	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs430759	0.81[EUR][1000 genomes]
rs435572	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs443609	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs455060	0.89[EUR][1000 genomes]
rs466126	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs472101	0.81[ASN][1000 genomes]
rs479333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs494569	0.86[EUR][1000 genomes]
rs4952247	0.84[EUR][1000 genomes]
rs4952249	0.81[EUR][1000 genomes]
rs4952250	0.85[EUR][1000 genomes]
rs56861054	0.91[ASN][1000 genomes]
rs59966205	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62134033	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543649	0.85[EUR][1000 genomes]
rs659239	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6738349	0.81[EUR][1000 genomes]
rs6747488	0.82[EUR][1000 genomes]
rs7559964	0.84[EUR][1000 genomes]
rs7561519	0.82[EUR][1000 genomes]
rs7566162	0.83[EUR][1000 genomes]
rs7573543	0.86[EUR][1000 genomes]
rs7581032	0.84[EUR][1000 genomes]
rs7581340	0.85[EUR][1000 genomes]
rs7605242	0.83[EUR][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	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32491000-32496000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:32492400-32495000	Enhancers	Fetal Heart	heart
3	chr2:32492600-32502000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:32492600-32502200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:32493800-32494200	Enhancers	HepG2	liver

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