Variant report

Variant	rs74089171
Chromosome Location	chr12:48588517-48588518
allele	A/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	TCF12	chr12:48588191-48589362	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr12:48588463-48589244	SK-N-SH	brain:	n/a	n/a
3	JUND	chr12:48588382-48589138	SK-N-SH	brain:	n/a	n/a
4	GATA2	chr12:48588487-48589160	SH-SY5Y	brain:	n/a	chr12:48588541-48588551 chr12:48588528-48588541 chr12:48588532-48588543
5	MEF2A	chr12:48588405-48589079	SK-N-SH	brain:	n/a	chr12:48588543-48588551 chr12:48588556-48588571 chr12:48588480-48588497
6	TEAD4	chr12:48588390-48589309	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr12:48588347-48589056	SK-N-SH	brain:	n/a	n/a
8	TEAD4	chr12:48588417-48589092	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr12:48588138-48589217	SH-SY5Y	brain:	n/a	chr12:48588541-48588551 chr12:48588528-48588541 chr12:48588532-48588543
10	EP300	chr12:48588174-48589543	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr12:48588348-48589302	SK-N-SH	brain:	n/a	n/a
12	EP300	chr12:48588431-48588900	SK-N-SH_RA	brain:	n/a	n/a
13	TCF12	chr12:48588221-48589384	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr12:48588286-48589380	SK-N-SH	brain:	n/a	chr12:48588541-48588551 chr12:48588528-48588541 chr12:48588532-48588543
15	EP300	chr12:48588495-48588888	SK-N-SH_RA	brain:	n/a	n/a
16	POLR2A	chr12:48588492-48589077	SK-N-SH	brain:	n/a	n/a
17	EP300	chr12:48588404-48589312	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr12:48588189-48589414	SK-N-SH	brain:	n/a	chr12:48588541-48588551 chr12:48588528-48588541 chr12:48588532-48588543
19	JUND	chr12:48588311-48589261	SK-N-SH	brain:	n/a	n/a
20	NFIC	chr12:48588234-48589244	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48587647..48589983-chr12:48590622..48592534,2	K562	blood:
2	chr12:48582939..48585251-chr12:48585602..48588583,3	K562	blood:
3	chr12:48582939..48584871-chr12:48586838..48589561,2	K562	blood:

Variant related genes	Relation type
ENSG00000269514	TF binding region
ENSG00000269514	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55759881	0.83[AMR][1000 genomes]
rs55789595	0.83[AMR][1000 genomes]
rs55991805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57539024	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58148022	0.83[AMR][1000 genomes]
rs58373242	0.83[AMR][1000 genomes]
rs59051221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59643562	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59787033	1.00[AMR][1000 genomes]
rs59896935	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60001451	1.00[AMR][1000 genomes]
rs60316794	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61558457	1.00[AMR][1000 genomes]
rs61750873	0.83[AMR][1000 genomes]
rs7316275	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086781	0.83[AMR][1000 genomes]
rs74086968	0.83[AMR][1000 genomes]
rs74086984	1.00[AMR][1000 genomes]
rs74089112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089120	1.00[AMR][1000 genomes]
rs74089127	1.00[AMR][1000 genomes]
rs74089135	1.00[AMR][1000 genomes]
rs74089149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089151	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74089540	0.83[AMR][1000 genomes]
rs74089548	0.83[AMR][1000 genomes]
rs74089549	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv33956	chr12:48565643-48645561	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48580000-48591000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:48583000-48590200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:48585400-48590800	Weak transcription	HMEC	breast
4	chr12:48585800-48589800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:48585800-48591400	Weak transcription	Esophagus	oesophagus
6	chr12:48587400-48589200	Enhancers	Hela-S3	cervix
7	chr12:48587400-48590600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:48587400-48590800	Weak transcription	NHEK	skin
9	chr12:48587600-48590800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:48588000-48588600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:48588000-48589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:48588200-48588800	Bivalent Enhancer	HUVEC	blood vessel
13	chr12:48588200-48589200	Bivalent Enhancer	Osteobl	bone
14	chr12:48588200-48590000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:48588400-48588600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:48588400-48589200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:48588400-48589400	Weak transcription	Placenta	Placenta
18	chr12:48588400-48590000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr12:48588400-48590800	Enhancers	A549	lung

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