Variant report

Variant	rs9370503
Chromosome Location	chr6:56143018-56143019
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	TEAD4	chr6:56142947-56143354	H1-hESC	embryonic stem cell:	n/a	n/a
2	JUND	chr6:56142946-56143249	A549	lung:	n/a	n/a
3	POLR2A	chr6:56142773-56143592	SK-N-MC	brain:	n/a	n/a
4	EP300	chr6:56142828-56143422	A549	lung:	n/a	n/a
5	SP1	chr6:56142735-56143351	A549	lung:	n/a	n/a
6	GATA3	chr6:56142830-56143498	A549	lung:	n/a	chr6:56143355-56143365 chr6:56142832-56142842
7	REST	chr6:56142808-56143344	A549	lung:	n/a	n/a
8	TCF12	chr6:56142639-56143411	A549	lung:	n/a	n/a
9	FOSL2	chr6:56142846-56143337	A549	lung:	n/a	n/a
10	BCL3	chr6:56142843-56143422	A549	lung:	n/a	n/a
11	TCF12	chr6:56142818-56143213	A549	lung:	n/a	n/a
12	FOXA2	chr6:56142833-56143384	A549	lung:	n/a	n/a
13	FOXP2	chr6:56142775-56143298	SK-N-MC	brain:	n/a	n/a
14	FOXA2	chr6:56142810-56143366	A549	lung:	n/a	n/a
15	EP300	chr6:56142656-56143340	A549	lung:	n/a	n/a
16	SP1	chr6:56142725-56143401	A549	lung:	n/a	n/a
17	GATA3	chr6:56142902-56143408	A549	lung:	n/a	chr6:56143355-56143365

Variant related genes	Relation type
ENSG00000219095	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11755307	0.86[ASN][1000 genomes]
rs11757974	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12176518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13194940	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195010	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13195163	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198069	0.86[ASN][1000 genomes]
rs13202214	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13209928	0.86[ASN][1000 genomes]
rs13214022	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13219013	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13219390	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1925159	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1925162	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3846932	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4119564	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4119565	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4329119	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571565	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs724678	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9349808	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9349810	0.86[ASN][1000 genomes]
rs9357901	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9370499	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9370500	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9382605	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9396186	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9396188	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9396189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv885911	chr6:55789704-56143231	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56141000-56143400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:56142000-56144000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:56142400-56143800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:56142600-56143200	Enhancers	A549	lung
5	chr6:56142600-56145000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:56142800-56143600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr6:56142800-56143600	Enhancers	Fetal Lung	lung
8	chr6:56142800-56143800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:56142800-56144400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:56142800-56144600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:56142800-56144800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:56143000-56143400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:56143000-56143400	Enhancers	Fetal Muscle Leg	muscle
14	chr6:56143000-56143600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:56143000-56143800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:56143000-56143800	Enhancers	Fetal Stomach	stomach
17	chr6:56143000-56144000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:56143000-56144000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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