Variant report

Variant	rs2060424
Chromosome Location	chr5:89523688-89523689
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89518716..89521688-chr5:89521836..89523826,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10057339	0.92[ASN][1000 genomes]
rs10057437	0.92[ASN][1000 genomes]
rs10065267	0.92[ASN][1000 genomes]
rs1019992	0.97[ASN][1000 genomes]
rs10514322	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514802	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12519699	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12519873	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1369113	0.97[ASN][1000 genomes]
rs1434598	0.97[ASN][1000 genomes]
rs17534388	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17599827	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916601	0.97[ASN][1000 genomes]
rs2916619	0.92[ASN][1000 genomes]
rs2935505	0.82[ASN][1000 genomes]
rs2950054	0.81[EUR][1000 genomes]
rs62377962	0.98[EUR][1000 genomes]
rs6882966	0.97[ASN][1000 genomes]
rs7718251	0.92[ASN][1000 genomes]
rs9293538	0.97[ASN][1000 genomes]
rs9293539	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv882362	chr5:89437963-89604380	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv830391	chr5:89456582-89641195	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv830393	chr5:89499644-89658493	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2763468	chr5:89510692-89535449	Enhancers Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89522000-89524200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr5:89522400-89523800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:89522400-89523800	Enhancers	Brain Germinal Matrix	brain
4	chr5:89522400-89523800	Enhancers	Fetal Muscle Leg	muscle
5	chr5:89522400-89523800	Enhancers	GM12878-XiMat	blood
6	chr5:89522600-89525400	Weak transcription	Aorta	Aorta
7	chr5:89523200-89523800	Enhancers	Colonic Mucosa	Colon
8	chr5:89523200-89523800	Enhancers	Esophagus	oesophagus
9	chr5:89523200-89523800	Enhancers	Ovary	ovary
10	chr5:89523200-89523800	Enhancers	Psoas Muscle	Psoas
11	chr5:89523200-89523800	Enhancers	Right Atrium	heart
12	chr5:89523600-89524000	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr5:89523600-89524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:89523600-89524200	Enhancers	Fetal Kidney	kidney
15	chr5:89523600-89524600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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