Variant report

Variant	rs3990324
Chromosome Location	chr13:50372487-50372488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50363308..50365589-chr13:50370131..50372850,2	K562	blood:
2	chr13:50365715..50368789-chr13:50370446..50373134,3	K562	blood:
3	chr13:50365538..50368306-chr13:50370058..50373207,5	K562	blood:

Variant related genes	Relation type
ENSG00000102753	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13313256	0.90[ASN][1000 genomes]
rs17073347	0.90[ASN][1000 genomes]
rs17073356	0.90[ASN][1000 genomes]
rs1885723	0.96[ASN][1000 genomes]
rs1998363	0.90[ASN][1000 genomes]
rs3742094	0.96[ASN][1000 genomes]
rs3782929	0.90[ASN][1000 genomes]
rs3903770	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4941656	0.96[ASN][1000 genomes]
rs4942865	0.93[ASN][1000 genomes]
rs57794226	0.90[ASN][1000 genomes]
rs58124341	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59823147	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs60019803	0.90[ASN][1000 genomes]
rs60856213	0.90[ASN][1000 genomes]
rs7321391	0.93[ASN][1000 genomes]
rs7334018	0.89[ASN][1000 genomes]
rs7335016	0.94[ASN][1000 genomes]
rs7335310	0.89[ASN][1000 genomes]
rs73485710	0.93[ASN][1000 genomes]
rs765291	0.94[ASN][1000 genomes]
rs765292	0.94[ASN][1000 genomes]
rs7989633	0.96[ASN][1000 genomes]
rs9591296	0.90[ASN][1000 genomes]
rs9596188	0.89[ASN][1000 genomes]
rs9596189	0.89[ASN][1000 genomes]
rs9596194	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900072	chr13:50266109-50381016	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv900073	chr13:50286218-50381016	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1818134	chr13:50306897-50374102	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv900074	chr13:50317104-50381016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv900075	chr13:50331992-50376858	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	esv1835811	chr13:50370004-50374102	Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1839614	chr13:50370004-50374102	Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50368000-50372600	Weak transcription	Spleen	Spleen
2	chr13:50368400-50378600	Weak transcription	HepG2	liver
3	chr13:50368600-50374400	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links