Variant report

Variant	rs2330139
Chromosome Location	chr5:29787554-29787555
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:29787147..29790106-chr5:29792184..29794445,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10055152	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11954752	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12513511	0.85[EUR][1000 genomes]
rs12516688	0.81[AMR][1000 genomes]
rs12517227	0.81[AMR][1000 genomes]
rs12517273	0.81[AMR][1000 genomes]
rs12521052	0.86[EUR][1000 genomes]
rs12522971	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12651934	0.93[ASN][1000 genomes]
rs1379054	0.81[EUR][1000 genomes]
rs1456641	0.81[AMR][1000 genomes]
rs1456642	0.81[AMR][1000 genomes]
rs1463414	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1563510	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16899413	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16899416	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1993437	0.82[EUR][1000 genomes]
rs2330137	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330138	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925526	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4343854	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4458582	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4621572	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58977762	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62348702	0.86[EUR][1000 genomes]
rs62348703	0.86[EUR][1000 genomes]
rs62348704	0.86[EUR][1000 genomes]
rs62348709	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6877378	0.81[AMR][1000 genomes]
rs6886264	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6888568	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6893901	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9292341	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016603	chr5:29102713-29843965	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv537712	chr5:29102713-29843965	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3385368	chr5:29548608-29910057	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv830244	chr5:29630122-29790611	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1029329	chr5:29778216-29805002	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1026460	chr5:29785485-29814309	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	nsv1034228	chr5:29785485-29815868	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
8	nsv1018046	chr5:29785776-29818396	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv1019541	chr5:29786932-29814309	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv1016811	chr5:29786932-29824596	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29781200-29788400	Weak transcription	HepG2	liver
2	chr5:29785400-29787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links