Variant report

Variant	rs1027197
Chromosome Location	chr3:67343367-67343368
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	TEAD4	chr3:67342862-67343837	HepG2	liver:	n/a	n/a
2	SIN3AK20	chr3:67342906-67343765	MCF-7	breast:	n/a	n/a
3	CEBPB	chr3:67342966-67343834	HepG2	liver:	n/a	chr3:67343128-67343139
4	POLR2A	chr3:67343062-67343368	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr3:67342973-67343564	HepG2	liver:	n/a	n/a
6	CEBPB	chr3:67342865-67343700	MCF-7	breast:	n/a	chr3:67343128-67343139
7	FOXA1	chr3:67342953-67343737	HepG2	liver:	n/a	n/a
8	JUN	chr3:67343145-67344110	HepG2	liver:	n/a	chr3:67343536-67343547 chr3:67343950-67343963
9	ZNF217	chr3:67343072-67343529	MCF-7	breast:	n/a	n/a
10	CEBPB	chr3:67342939-67344115	HepG2	liver:	n/a	chr3:67343128-67343139
11	FOXA1	chr3:67343039-67343589	T-47D	breast:	n/a	n/a
12	FOXA1	chr3:67342963-67343606	HepG2	liver:	n/a	n/a
13	FOXA1	chr3:67343047-67343670	HepG2	liver:	n/a	n/a
14	CEBPB	chr3:67342894-67343761	MCF-7	breast:	n/a	chr3:67343128-67343139
15	GATA3	chr3:67343145-67343621	T-47D	breast:	n/a	n/a
16	GATA3	chr3:67343271-67343656	MCF-7	breast:	n/a	n/a
17	MYBL2	chr3:67342873-67343664	HepG2	liver:	n/a	n/a
18	GATA3	chr3:67343173-67343665	T-47D	breast:	n/a	n/a
19	E2F4	chr3:67343036-67343708	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr3:67343032-67343545	T-47D	breast:	n/a	n/a
21	HNF4G	chr3:67343366-67343690	HepG2	liver:	n/a	n/a
22	GATA3	chr3:67343310-67343526	MCF-7	breast:	n/a	n/a
23	JUND	chr3:67343130-67344118	HepG2	liver:	n/a	chr3:67343536-67343547
24	FOXA2	chr3:67342958-67343626	HepG2	liver:	n/a	n/a
25	GATA3	chr3:67342987-67343829	MCF-7	breast:	n/a	n/a
26	HDAC2	chr3:67343011-67343687	HepG2	liver:	n/a	chr3:67343265-67343274
27	EP300	chr3:67343186-67343660	HepG2	liver:	n/a	chr3:67343470-67343480
28	ARID3A	chr3:67343043-67343673	HepG2	liver:	n/a	n/a
29	GATA3	chr3:67342932-67343817	MCF-7	breast:	n/a	n/a
30	EP300	chr3:67342885-67343789	HepG2	liver:	n/a	chr3:67343470-67343480
31	FOS	chr3:67342991-67343459	MCF10A-Er-Src	breast:	n/a	n/a
32	EP300	chr3:67343101-67343556	HepG2	liver:	n/a	chr3:67343470-67343480
33	FOS	chr3:67342953-67343535	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000241884	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1027198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1387871	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1490267	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1490273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17046165	0.81[ASN][1000 genomes]
rs1994611	0.86[EUR][1000 genomes]
rs2171932	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2363710	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57388155	0.86[ASN][1000 genomes]
rs62254720	0.81[ASN][1000 genomes]
rs62254721	0.81[ASN][1000 genomes]
rs62254722	0.81[ASN][1000 genomes]
rs6548443	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6787783	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007093	chr3:67113534-67602973	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:67338800-67344000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:67340800-67347200	Enhancers	HepG2	liver
3	chr3:67342200-67343800	Enhancers	Stomach Mucosa	stomach
4	chr3:67342400-67343600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:67342600-67343600	Enhancers	Brain Hippocampus Middle	brain
6	chr3:67342800-67343600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr3:67342800-67343600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr3:67342800-67343800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:67343000-67343400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:67343000-67343800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:67343000-67352200	Weak transcription	Aorta	Aorta

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