Variant report

Variant	rs2662282
Chromosome Location	chr5:90326582-90326583
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	chr5:90325968..90328766-chr5:90677974..90679493,2	K562	blood:
2	chr5:90322115..90324122-chr5:90324503..90326685,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10942624	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12186662	0.85[ASN][1000 genomes]
rs13179479	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180409	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1819073	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1819074	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1828177	0.91[ASN][1000 genomes]
rs1828178	0.91[ASN][1000 genomes]
rs1848486	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1848487	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1852734	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2048217	0.91[ASN][1000 genomes]
rs2367186	0.90[ASN][1000 genomes]
rs2367274	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2463775	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2662278	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2662279	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2662280	0.92[EUR][1000 genomes]
rs2662281	0.99[ASN][1000 genomes]
rs2662283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2662284	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2697543	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2697544	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2697546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28875340	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4254936	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4454077	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6452930	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6452934	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs689544	0.99[ASN][1000 genomes]
rs7706034	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7719311	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7723511	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7733230	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs937920	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs998788	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90314800-90327000	Weak transcription	Gastric	stomach
2	chr5:90320800-90326800	Weak transcription	NHEK	skin
3	chr5:90322200-90327400	Enhancers	A549	lung
4	chr5:90323400-90326600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:90323600-90327000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:90323600-90330400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:90323600-90332800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:90324200-90327000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:90324200-90329000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:90324200-90330400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:90324200-90332800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:90324200-90332800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:90324600-90335200	Weak transcription	Small Intestine	intestine
14	chr5:90324600-90350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:90324800-90329200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:90325000-90326600	Weak transcription	Liver	Liver
17	chr5:90325000-90326600	Weak transcription	Fetal Intestine Small	intestine
18	chr5:90325000-90326800	Weak transcription	Fetal Intestine Large	intestine
19	chr5:90325000-90328600	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:90325800-90327000	Enhancers	HepG2	liver
21	chr5:90326400-90327400	Enhancers	Stomach Mucosa	stomach
22	chr5:90326400-90329400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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