Variant report

Variant	rs1732350
Chromosome Location	chr12:42470738-42470739
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	RCOR1	chr12:42470571-42471165	K562	blood:	n/a	n/a
2	GATA2	chr12:42470709-42471217	K562	blood:	n/a	chr12:42470950-42470960 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959
3	TEAD4	chr12:42470709-42471249	K562	blood:	n/a	n/a
4	ZC3H11A	chr12:42470709-42470895	K562	blood:	n/a	n/a
5	STAT5A	chr12:42470719-42471232	K562	blood:	n/a	chr12:42470774-42470781
6	JUND	chr12:42470731-42471159	K562	blood:	n/a	n/a
7	TRIM28	chr12:42470721-42471222	K562	blood:	n/a	n/a
8	SPI1	chr12:42470671-42470966	HL-60	blood:	n/a	chr12:42470775-42470784 chr12:42470774-42470787
9	CEBPD	chr12:42470722-42471288	K562	blood:	n/a	n/a
10	TEAD4	chr12:42470710-42471260	K562	blood:	n/a	n/a
11	EP300	chr12:42470713-42471199	K562	blood:	n/a	chr12:42470775-42470784
12	TBL1XR1	chr12:42470513-42471144	K562	blood:	n/a	n/a
13	TAL1	chr12:42470519-42471232	K562	blood:	n/a	chr12:42470601-42470609
14	CEBPD	chr12:42470726-42471199	K562	blood:	n/a	n/a
15	SPI1	chr12:42470654-42470909	K562	blood:	n/a	chr12:42470775-42470784 chr12:42470774-42470787
16	PML	chr12:42470712-42471248	K562	blood:	n/a	n/a
17	SPI1	chr12:42470651-42470867	K562	blood:	n/a	chr12:42470775-42470784 chr12:42470774-42470787
18	GATA1	chr12:42470268-42471378	K562	blood:	n/a	chr12:42470950-42470960 chr12:42470589-42470598 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470620-42470641
19	POLR2A	chr12:42470438-42471258	Hela-S3	cervix:	n/a	n/a
20	GATA1	chr12:42470224-42471561	PBDE	blood:	n/a	chr12:42470950-42470960 chr12:42470589-42470598 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470952-42470959 chr12:42470620-42470641

Variant related genes	Relation type
ENSG00000222884	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1024700	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1233988	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1233992	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1233994	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1233996	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1234037	0.80[AMR][1000 genomes]
rs1234038	0.80[AMR][1000 genomes]
rs1234040	0.80[AMR][1000 genomes]
rs1234054	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12826710	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1463613	0.80[AMR][1000 genomes]
rs1683198	0.81[AMR][1000 genomes]
rs1688855	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1688874	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1688879	0.80[AMR][1000 genomes]
rs1732351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1732352	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1882139	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1994284	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3852592	0.80[AMR][1000 genomes]
rs6582378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136038	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7305763	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs824697	0.80[AMR][1000 genomes]
rs824699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs824716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824717	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs824718	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs824722	0.81[AMR][1000 genomes]
rs824724	0.80[AMR][1000 genomes]
rs824726	0.80[AMR][1000 genomes]
rs844046	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs865420	0.80[AMR][1000 genomes]
rs917666	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1047830	chr12:42466192-42497603	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42463800-42474600	Weak transcription	Left Ventricle	heart
2	chr12:42464600-42484000	Weak transcription	HSMM	muscle
3	chr12:42467400-42471200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:42468400-42490200	Weak transcription	Spleen	Spleen
5	chr12:42469400-42491800	Weak transcription	Ovary	ovary
6	chr12:42470200-42471400	Enhancers	K562	blood
7	chr12:42470400-42479200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:42470400-42484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:42470600-42475000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:42470600-42476000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:42470600-42484000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:42470600-42491400	Weak transcription	Duodenum Mucosa	Duodenum

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