Variant report

Variant	rs552950
Chromosome Location	chr4:56248208-56248209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr4:56248137-56249199	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:56247536..56249762-chr4:56263632..56266279,3	K562	blood:
2	chr4:56209741..56214746-chr4:56246986..56251789,8	K562	blood:
3	chr4:56211308..56214746-chr4:56245753..56253172,10	K562	blood:
4	chr4:56240281..56248484-chr4:56258541..56264383,10	MCF-7	breast:
5	chr4:56248184..56250642-chr4:56260280..56262635,2	K562	blood:
6	chr4:56246727..56248649-chr4:56813928..56816601,2	K562	blood:
7	chr4:56246775..56248622-chr4:56253097..56255094,2	MCF-7	breast:
8	chr4:56245537..56248832-chr4:56260791..56264132,6	MCF-7	breast:
9	chr4:56246818..56249093-chr4:56250020..56252350,3	MCF-7	breast:

No data

Variant related genes	Relation type
SRD5A3-AS1	TF binding region
ENSG00000249700	Chromatin interaction
ENSG00000273257	Chromatin interaction
ENSG00000134851	Chromatin interaction
ENSG00000128039	Chromatin interaction
ENSG00000174799	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10010762	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10021233	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10024928	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17776975	0.84[ASN][1000 genomes]
rs1818460	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1818461	0.84[ASN][1000 genomes]
rs1961107	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2538	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28609134	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3087606	0.95[ASN][1000 genomes]
rs4089487	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4455482	1.00[ASN][1000 genomes]
rs475465	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476184	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482114	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs483978	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs496055	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499110	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs525271	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552792	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556072	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56139168	0.84[ASN][1000 genomes]
rs572428	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs572553	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs573960	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs576732	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58176292	0.88[ASN][1000 genomes]
rs58506276	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59648459	0.91[ASN][1000 genomes]
rs60097207	0.84[ASN][1000 genomes]
rs62303681	0.84[ASN][1000 genomes]
rs62305200	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62305201	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62305202	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62305206	0.98[ASN][1000 genomes]
rs62306207	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693367	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs819203	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs819266	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs819267	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs819268	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs819269	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs819270	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs861029	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880358	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328582	chr4:56164136-56486156	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv999477	chr4:56219035-56397180	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv537101	chr4:56219035-56397180	Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56213800-56251400	Weak transcription	Pancreas	Pancrea
2	chr4:56228400-56251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:56233200-56261600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:56236400-56248400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:56239800-56251400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:56240200-56249400	Weak transcription	Left Ventricle	heart
7	chr4:56240400-56259600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:56246200-56251400	Weak transcription	Hela-S3	cervix
9	chr4:56246400-56248400	Enhancers	HepG2	liver
10	chr4:56247400-56248400	Enhancers	Brain Hippocampus Middle	brain
11	chr4:56247400-56248400	Enhancers	Brain Substantia Nigra	brain
12	chr4:56247600-56248400	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:56247800-56249200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:56247800-56250600	Weak transcription	Brain Angular Gyrus	brain
15	chr4:56248000-56248400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:56248000-56254000	Weak transcription	Spleen	Spleen
17	chr4:56248000-56259400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:56248200-56250600	Weak transcription	K562	blood
19	chr4:56248200-56251400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:56248200-56261400	Weak transcription	Aorta	Aorta

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