Variant report

Variant	rs9397394
Chromosome Location	chr6:150190551-150190552
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr6:150190338-150190706	HepG2	liver:	n/a	n/a
2	IRF1	chr6:150190454-150190654	K562	blood:	n/a	n/a
3	MAFF	chr6:150190410-150190785	K562	blood:	n/a	n/a
4	MAFK	chr6:150190165-150190728	K562	blood:	n/a	chr6:150190426-150190437
5	BACH1	chr6:150188976-150190762	K562	blood:	n/a	n/a
6	CBX3	chr6:150188243-150191119	K562	blood:	n/a	n/a
7	MYC	chr6:150190519-150190736	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150187701..150190612-chr6:150206560..150208609,2	K562	blood:
2	chr6:150182195..150187725-chr6:150188544..150196234,11	MCF-7	breast:
3	chr6:150188984..150191579-chr6:150203817..150206821,3	MCF-7	breast:
4	chr6:150188453..150191090-chr6:150209708..150211958,2	K562	blood:

No data

Variant related genes	Relation type
LRP11	TF binding region
ENSG00000120256	Chromatin interaction
ENSG00000223701	Chromatin interaction
ENSG00000268592	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10457853	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17079029	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2342773	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4142628	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6557137	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6557163	0.91[EUR][1000 genomes]
rs6904335	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6905778	0.88[EUR][1000 genomes]
rs6910351	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6915465	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6927913	0.89[EUR][1000 genomes]
rs6936944	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72997594	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7745070	0.89[EUR][1000 genomes]
rs7761734	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9322226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9322227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9322230	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9322231	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9371216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9371502	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9371523	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9371539	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9371555	0.88[EUR][1000 genomes]
rs9383569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9383573	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9383583	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9383916	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9383942	0.87[EUR][1000 genomes]
rs9383943	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9383944	0.89[EUR][1000 genomes]
rs9383945	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9397049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9397053	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9397056	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9397057	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9397060	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9397071	0.88[EUR][1000 genomes]
rs9397387	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9397399	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9397419	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9397447	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9397449	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9397451	0.85[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	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150186200-150194400	Weak transcription	Pancreas	Pancrea
2	chr6:150189400-150191000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:150189600-150190800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr6:150189800-150190600	Enhancers	K562	blood
5	chr6:150189800-150191200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:150190000-150191400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:150190200-150191600	Enhancers	HUVEC	blood vessel

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