Variant report

Variant	rs12055217
Chromosome Location	chr5:90239015-90239016
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90226670..90228954-chr5:90237004..90239086,2	K562	blood:
2	chr5:90238591..90241257-chr5:90676155..90678495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10035662	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs10052015	0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10052314	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10053303	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10060641	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10078496	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10474336	0.87[ASN][1000 genomes]
rs10514340	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10942620	0.83[ASN][1000 genomes]
rs12054681	0.94[ASN][1000 genomes]
rs12513628	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12515473	0.83[ASN][1000 genomes]
rs12515481	0.91[ASN][1000 genomes]
rs12520956	0.91[ASN][1000 genomes]
rs12522395	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs13355731	0.82[ASN][1000 genomes]
rs16869247	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17556421	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs28597697	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4916698	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55977992	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs56908576	0.91[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57954532	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58201771	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6878896	0.90[ASN][1000 genomes]
rs73185149	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73185150	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724016	0.94[ASN][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:90228400-90239200	Weak transcription	Aorta	Aorta
3	chr5:90230400-90265200	Weak transcription	K562	blood
4	chr5:90231600-90250800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:90236600-90243400	Weak transcription	HepG2	liver
6	chr5:90236800-90239400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:90236800-90239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:90236800-90239400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:90236800-90239400	Weak transcription	HMEC	breast
10	chr5:90236800-90240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:90236800-90263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:90237000-90239200	Weak transcription	NHEK	skin
13	chr5:90237400-90241000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:90237400-90246400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:90237600-90239200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:90237600-90239400	Weak transcription	A549	lung
17	chr5:90237600-90241600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:90237600-90241800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:90237600-90242200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:90237600-90245600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:90237800-90241600	Weak transcription	Brain Germinal Matrix	brain

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