Variant report

Variant	rs12050058
Chromosome Location	chr13:92417970-92417971
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:92414642..92418617-chr13:92420339..92423769,4	K562	blood:
2	chr13:91998400..92000626-chr13:92417497..92419745,2	K562	blood:
3	chr13:92329658..92332164-chr13:92415917..92418730,3	K562	blood:
4	chr13:92416606..92418610-chr13:92424268..92426806,2	K562	blood:
5	chr13:92411924..92414479-chr13:92417202..92420312,3	K562	blood:

Variant related genes	Relation type
ENSG00000215417	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs12430247	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12430256	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12431259	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs1330472	0.89[CHB][hapmap]
rs1394888	0.90[CHB][hapmap]
rs1412313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1505565	0.94[CHB][hapmap]
rs173141	0.94[CHB][hapmap]
rs17668312	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17668748	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs1827755	0.90[CHB][hapmap]
rs182926	0.81[ASN][1000 genomes]
rs1831564	0.90[CHB][hapmap]
rs1847717	0.88[CHB][hapmap]
rs193208	0.94[CHB][hapmap]
rs1988500	0.90[CHB][hapmap]
rs2352028	0.94[CHB][hapmap]
rs2352029	1.00[CHB][hapmap]
rs2352202	0.90[CHB][hapmap]
rs2938868	0.94[CHB][hapmap]
rs2938869	0.95[CHB][hapmap]
rs2938874	0.95[CHB][hapmap]
rs2989995	1.00[CHB][hapmap]
rs2990004	0.94[CHB][hapmap]
rs2990007	0.94[CHB][hapmap]
rs342702	0.83[ASN][1000 genomes]
rs342706	0.94[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs400118	0.94[CHB][hapmap]
rs464160	0.95[CHB][hapmap]
rs522812	0.81[ASN][1000 genomes]
rs528366	0.94[CHB][hapmap]
rs535973	0.94[CHB][hapmap]
rs57676883	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57883840	0.89[AFR][1000 genomes]
rs58499122	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58505971	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58932811	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59464246	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60993910	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72647267	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7320766	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs7981451	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7985030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7986027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7987852	0.94[CHB][hapmap];0.92[JPT][hapmap]
rs7997428	0.89[CHB][hapmap]
rs9515975	0.90[CHB][hapmap]
rs9556115	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9556116	0.94[ASN][1000 genomes]
rs9556119	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9556120	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9556125	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs9560849	0.80[CHB][hapmap]
rs9560852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9560853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9560856	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9560860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9560861	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9560865	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9560868	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9560869	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap]
rs9560874	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap]
rs9560875	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs9560880	0.95[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs9560883	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs9589358	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049382	chr13:92024240-92521180	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv541873	chr13:92024240-92521180	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2753383	chr13:92226599-92462699	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv529268	chr13:92267310-92531263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv456065	chr13:92383193-92507887	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv562719	chr13:92383193-92507887	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv948820	chr13:92408505-92519053	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92383000-92419400	Weak transcription	Hela-S3	cervix
2	chr13:92416000-92419200	Weak transcription	Fetal Intestine Large	intestine
3	chr13:92417200-92418600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr13:92417800-92426800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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