Variant report

Variant	rs1567520
Chromosome Location	chr5:118159871-118159872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:117502319..117505069-chr5:118158604..118161182,2	K562	blood:
2	chr5:118159743..118162265-chr5:118287763..118289308,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10519564	1.00[CHB][hapmap]
rs11959589	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12109156	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs12109252	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs1448479	1.00[JPT][hapmap]
rs1510971	1.00[CHB][hapmap]
rs17132677	1.00[CHB][hapmap];0.84[GIH][hapmap]
rs17144552	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17144714	1.00[JPT][hapmap]
rs17144824	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs17144836	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs17144872	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17144877	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17381247	1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs17440213	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2029036	1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2084460	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2115301	1.00[JPT][hapmap]
rs2217310	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs2376854	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377127	1.00[CHB][hapmap];0.91[GIH][hapmap]
rs28640997	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813297	1.00[JPT][hapmap]
rs3813298	1.00[JPT][hapmap]
rs4392657	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4634381	1.00[CHB][hapmap]
rs4895184	1.00[JPT][hapmap]
rs4895353	1.00[JPT][hapmap]
rs4895354	1.00[JPT][hapmap]
rs56034428	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57186800	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57503789	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58737380	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60688439	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62374076	0.86[AFR][1000 genomes]
rs6860946	1.00[CHB][hapmap]
rs6862297	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6863802	1.00[CHB][hapmap]
rs6870923	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6874399	1.00[CHB][hapmap];0.84[GIH][hapmap]
rs6880144	1.00[CHB][hapmap]
rs6892437	1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs6896086	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73789435	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73790355	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73792413	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73792414	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7706037	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7710339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7724403	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7724753	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7734815	1.00[CHB][hapmap]
rs7737716	1.00[CHB][hapmap]

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	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv599562	chr5:118122504-118230640	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118127000-118160000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:118143400-118178200	Weak transcription	Left Ventricle	heart
3	chr5:118158200-118176400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:118158400-118169200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:118158800-118160200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:118159600-118160200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:118159800-118160200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:118159800-118161800	Enhancers	Fetal Heart	heart

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