Variant report

Variant	rs12502193
Chromosome Location	chr4:127890943-127890944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127890829..127893804-chr4:127895608..127897503,2	K562	blood:
2	chr4:127875427..127880054-chr4:127888874..127892075,5	K562	blood:
3	chr4:127887278..127889160-chr4:127890616..127894072,4	K562	blood:
4	chr4:127882715..127885766-chr4:127890453..127894088,4	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10014196	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098905	0.93[ASN][1000 genomes]
rs1155256	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11721464	0.94[ASN][1000 genomes]
rs11723741	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11723829	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736547	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12504419	0.94[ASN][1000 genomes]
rs12508997	0.94[ASN][1000 genomes]
rs12509001	0.94[ASN][1000 genomes]
rs12510422	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12512914	0.94[ASN][1000 genomes]
rs13101381	0.92[ASN][1000 genomes]
rs13101547	0.89[EUR][1000 genomes]
rs13107386	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13107479	0.92[ASN][1000 genomes]
rs13111315	0.94[ASN][1000 genomes]
rs13123992	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13125496	0.83[ASN][1000 genomes]
rs13138236	0.94[ASN][1000 genomes]
rs13141720	0.93[ASN][1000 genomes]
rs13142058	0.87[ASN][1000 genomes]
rs13142376	0.81[ASN][1000 genomes]
rs13149848	0.84[ASN][1000 genomes]
rs1397433	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1510680	0.89[EUR][1000 genomes]
rs1533089	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1567491	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17011876	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17011922	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17011977	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1877072	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1995904	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1995906	0.93[ASN][1000 genomes]
rs1995907	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2048379	0.92[ASN][1000 genomes]
rs2221774	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34597806	0.94[ASN][1000 genomes]
rs34872217	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4833360	0.84[ASN][1000 genomes]
rs4833362	0.94[ASN][1000 genomes]
rs4834154	0.84[ASN][1000 genomes]
rs4834155	0.84[ASN][1000 genomes]
rs4834161	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60923968	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6534592	0.92[ASN][1000 genomes]
rs67251456	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6814753	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6815811	0.81[ASN][1000 genomes]
rs6837327	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6848070	0.94[ASN][1000 genomes]
rs7667742	0.88[EUR][1000 genomes]
rs7685181	0.94[ASN][1000 genomes]
rs925374	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9942226	0.94[ASN][1000 genomes]
rs997404	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428773	chr4:127760014-127913973	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830055	chr4:127794875-127993821	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv879913	chr4:127844803-127948196	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127883000-127892400	Weak transcription	K562	blood
2	chr4:127889200-127891000	Enhancers	Colon Smooth Muscle	Colon
3	chr4:127889800-127891200	Weak transcription	Aorta	Aorta
4	chr4:127890000-127891400	Enhancers	Fetal Stomach	stomach
5	chr4:127890200-127891400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:127890400-127891200	Enhancers	Stomach Smooth Muscle	stomach
7	chr4:127890400-127891400	Enhancers	Rectal Smooth Muscle	rectum
8	chr4:127890600-127891400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:127890600-127891400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:127890800-127891200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr4:127890800-127891400	Enhancers	Fetal Lung	lung
12	chr4:127890800-127891400	Enhancers	Fetal Muscle Leg	muscle

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