Variant report

Variant	rs1389485
Chromosome Location	chr12:76121503-76121504
allele	C/G
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	CEBPB	chr12:76121005-76121765	HepG2	liver:	n/a	chr12:76121624-76121633 chr12:76121622-76121635 chr12:76121126-76121137 chr12:76121125-76121136 chr12:76121125-76121136 chr12:76121125-76121138
2	POLR2A	chr12:76121039-76121593	HCT-116	colon:	n/a	n/a
3	RAD21	chr12:76121297-76121685	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:76120983-76121791	A549	lung:	n/a	chr12:76121624-76121633 chr12:76121622-76121635 chr12:76121126-76121137 chr12:76121125-76121136 chr12:76121125-76121136 chr12:76121125-76121138
5	CTCF	chr12:76121400-76121550	A549	lung:	n/a	chr12:76121423-76121436 chr12:76121497-76121506
6	CEBPB	chr12:76120877-76121801	A549	lung:	n/a	chr12:76121624-76121633 chr12:76121622-76121635 chr12:76121126-76121137 chr12:76121125-76121136 chr12:76121125-76121136 chr12:76121125-76121138
7	CTCF	chr12:76121360-76121510	HRPEpiC	eye:	n/a	chr12:76121423-76121436 chr12:76121497-76121506
8	CTCF	chr12:76121400-76121550	HCT-116	colon:	n/a	chr12:76121423-76121436 chr12:76121497-76121506
9	CEBPB	chr12:76121473-76121795	K562	blood:	n/a	chr12:76121624-76121633 chr12:76121622-76121635
10	TEAD4	chr12:76121403-76121621	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr12:76121487-76121761	IMR90	lung:	n/a	chr12:76121624-76121633 chr12:76121622-76121635
12	MAX	chr12:76121094-76121603	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000264062	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11832294	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12425049	0.95[EUR][1000 genomes]
rs1275570	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1493789	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76119600-76122800	Weak transcription	Psoas Muscle	Psoas
2	chr12:76119600-76127400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:76119800-76121800	Enhancers	A549	lung
4	chr12:76119800-76127000	Weak transcription	Fetal Lung	lung
5	chr12:76120200-76122400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:76120800-76121600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:76120800-76121800	Enhancers	HepG2	liver
8	chr12:76121000-76121600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:76121000-76121600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:76121000-76121600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:76121000-76121600	Enhancers	Fetal Stomach	stomach
12	chr12:76121200-76121600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:76121200-76121600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:76121200-76121600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:76121200-76121600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:76121200-76121600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:76121200-76121600	Enhancers	NHEK	skin
18	chr12:76121200-76121800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:76121200-76122000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:76121200-76122000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:76121200-76122000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:76121400-76121600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:76121400-76122000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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