Variant report

Variant	rs27264
Chromosome Location	chr5:50148861-50148862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs12519006	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12521579	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13359044	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs152102	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs154133	0.80[EUR][1000 genomes]
rs154134	0.84[ASN][1000 genomes]
rs154135	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs154137	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs154138	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs154140	0.84[ASN][1000 genomes]
rs154141	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs157970	0.83[EUR][1000 genomes]
rs169497	0.84[ASN][1000 genomes]
rs171555	0.80[EUR][1000 genomes]
rs17195388	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2548581	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2548582	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2548583	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256340	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs256341	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26062	0.92[ASN][1000 genomes]
rs26065	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs26066	0.80[EUR][1000 genomes]
rs26068	0.80[EUR][1000 genomes]
rs26069	0.84[ASN][1000 genomes]
rs26071	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27156	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs27244	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs27245	0.83[EUR][1000 genomes]
rs27251	0.83[EUR][1000 genomes]
rs27254	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27357	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs27465	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27468	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27469	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27574	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs27609	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs27627	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs27725	0.84[EUR][1000 genomes]
rs28085	0.84[EUR][1000 genomes]
rs28127	0.84[AMR][1000 genomes]
rs282549	0.80[EUR][1000 genomes]
rs282550	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs282551	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs282552	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs32376	0.84[ASN][1000 genomes]
rs32377	0.80[EUR][1000 genomes]
rs32378	0.80[EUR][1000 genomes]
rs32425	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs39613	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs39949	0.92[ASN][1000 genomes]
rs41502	0.82[EUR][1000 genomes]
rs42284	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7728126	0.87[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	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50125400-50149200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:50133400-50150000	Weak transcription	Adipose Nuclei	Adipose
3	chr5:50141400-50152400	Weak transcription	Dnd41	blood
4	chr5:50141600-50152800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:50147600-50153600	Enhancers	Primary B cells from cord blood	blood
6	chr5:50147800-50153600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:50148200-50153800	Enhancers	Primary B cells from peripheral blood	blood
8	chr5:50148400-50149800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr5:50148600-50149200	Flanking Active TSS	GM12878-XiMat	blood
10	chr5:50148600-50149400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:50148600-50149600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr5:50148800-50149400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:50148800-50149800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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