Variant report

Variant	rs11608849
Chromosome Location	chr12:74797215-74797216
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	NFYB	chr12:74797210-74797504	K562	blood:	n/a	n/a
2	POLR2A	chr12:74796666-74797225	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000251138	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1019690	0.82[ASN][1000 genomes]
rs1019692	0.82[ASN][1000 genomes]
rs1019693	0.82[ASN][1000 genomes]
rs1019694	0.82[ASN][1000 genomes]
rs10879749	0.82[ASN][1000 genomes]
rs10879759	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879779	0.86[ASN][1000 genomes]
rs11180015	0.82[ASN][1000 genomes]
rs11180027	0.81[ASN][1000 genomes]
rs11180036	0.81[ASN][1000 genomes]
rs11180049	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180063	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11829422	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12422910	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1346248	0.82[ASN][1000 genomes]
rs1365533	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1365534	0.82[ASN][1000 genomes]
rs1471296	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17113335	0.82[ASN][1000 genomes]
rs1824540	0.86[ASN][1000 genomes]
rs2012003	0.82[ASN][1000 genomes]
rs2012005	0.82[ASN][1000 genomes]
rs2162395	0.82[ASN][1000 genomes]
rs2169290	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66472931	0.82[ASN][1000 genomes]
rs66512760	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66671338	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66756307	0.82[ASN][1000 genomes]
rs67249120	0.82[ASN][1000 genomes]
rs67436776	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67452475	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67619450	0.82[ASN][1000 genomes]
rs67773463	0.82[ASN][1000 genomes]
rs68026423	0.82[ASN][1000 genomes]
rs68173977	0.82[ASN][1000 genomes]
rs72652864	0.82[ASN][1000 genomes]
rs72652865	0.82[ASN][1000 genomes]
rs7299438	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7305709	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7398187	0.81[ASN][1000 genomes]
rs965780	0.93[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	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74795200-74798000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:74796600-74797600	Weak transcription	Brain Angular Gyrus	brain
3	chr12:74796600-74797600	Weak transcription	Brain Substantia Nigra	brain
4	chr12:74796600-74798000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:74796600-74798200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:74796600-74807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:74796600-74807400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:74796800-74798000	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:74796800-74802400	Weak transcription	A549	lung

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