Variant report

Variant	rs13384563
Chromosome Location	chr2:86230921-86230922
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	chr2:86114984..86117058-chr2:86228998..86231280,2	K562	blood:
2	chr2:86230802..86233704-chr2:86235020..86238319,3	K562	blood:

Variant related genes	Relation type
ENSG00000232504	Chromatin interaction
ENSG00000115525	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10174095	0.84[ASN][1000 genomes]
rs1019591	0.91[ASN][1000 genomes]
rs1036554	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11899576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12612513	0.91[ASN][1000 genomes]
rs12614260	0.91[ASN][1000 genomes]
rs12622009	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13390702	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1561328	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17026854	0.93[ASN][1000 genomes]
rs17584578	0.91[ASN][1000 genomes]
rs17618001	0.91[ASN][1000 genomes]
rs2118521	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2164879	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2241437	0.86[ASN][1000 genomes]
rs2278085	0.93[ASN][1000 genomes]
rs2278087	0.91[ASN][1000 genomes]
rs2278088	0.91[ASN][1000 genomes]
rs2288121	0.81[ASN][1000 genomes]
rs2289237	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2303340	0.89[ASN][1000 genomes]
rs311562	0.81[ASN][1000 genomes]
rs311566	0.81[ASN][1000 genomes]
rs311567	0.81[ASN][1000 genomes]
rs34522092	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3731819	0.87[ASN][1000 genomes]
rs3770081	0.87[ASN][1000 genomes]
rs3770087	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770089	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3770090	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810827	0.89[ASN][1000 genomes]
rs3815840	0.81[ASN][1000 genomes]
rs4832242	0.81[ASN][1000 genomes]
rs56104203	0.89[ASN][1000 genomes]
rs56326127	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56977454	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57083584	0.91[ASN][1000 genomes]
rs57398459	0.91[ASN][1000 genomes]
rs58186343	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58365138	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58898686	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59835600	0.91[ASN][1000 genomes]
rs59891296	0.92[AFR][1000 genomes]
rs60649958	0.91[ASN][1000 genomes]
rs6750765	0.88[ASN][1000 genomes]
rs73943946	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73947314	0.93[ASN][1000 genomes]
rs7608262	0.97[ASN][1000 genomes]
rs918857	0.87[AFR][1000 genomes]
rs918858	0.85[AFR][1000 genomes]
rs9789563	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9973880	0.83[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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86226200-86231800	Enhancers	K562	blood
2	chr2:86226800-86231400	Weak transcription	Psoas Muscle	Psoas
3	chr2:86229600-86232400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:86230600-86231000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:86230600-86231000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr2:86230600-86231200	Weak transcription	Spleen	Spleen
7	chr2:86230800-86231000	Enhancers	Brain Hippocampus Middle	brain

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