Variant report

Variant	rs12199251
Chromosome Location	chr6:69429363-69429364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69426489..69429415-chr6:69449508..69452167,3	K562	blood:
2	chr6:69423760..69426080-chr6:69427890..69430012,2	K562	blood:
3	chr6:69427276..69429730-chr6:69482240..69484850,2	K562	blood:
4	chr6:69428185..69430149-chr6:69436142..69437737,2	K562	blood:
5	chr6:69423520..69425895-chr6:69426993..69429775,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10455674	0.92[ASN][1000 genomes]
rs10455676	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10484791	0.88[ASN][1000 genomes]
rs10945138	0.92[ASN][1000 genomes]
rs10945139	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11752398	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11752837	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12154008	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12192235	0.92[ASN][1000 genomes]
rs12200101	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12201488	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12206940	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12210045	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13218712	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2253866	0.84[EUR][1000 genomes]
rs2254654	0.89[ASN][1000 genomes]
rs2585592	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2585597	0.85[EUR][1000 genomes]
rs2585598	0.93[EUR][1000 genomes]
rs2585599	0.85[EUR][1000 genomes]
rs2585600	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2585604	0.85[EUR][1000 genomes]
rs2585621	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2585622	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2585623	0.84[EUR][1000 genomes]
rs2746125	0.84[EUR][1000 genomes]
rs2746127	0.83[EUR][1000 genomes]
rs2746130	0.85[EUR][1000 genomes]
rs2746131	0.84[EUR][1000 genomes]
rs2746132	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2746134	0.85[EUR][1000 genomes]
rs2746135	0.91[ASN][1000 genomes]
rs2746137	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2746140	0.85[EUR][1000 genomes]
rs2802676	0.92[ASN][1000 genomes]
rs2802677	0.87[EUR][1000 genomes]
rs2802680	0.84[EUR][1000 genomes]
rs2802684	0.85[EUR][1000 genomes]
rs2802687	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2802688	0.84[EUR][1000 genomes]
rs3121775	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4358587	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4507548	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs715294	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7745837	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7768591	0.92[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	nsv886130	chr6:68950298-69531957	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv970728	chr6:69426786-69430815	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69421400-69436400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:69427800-69430200	Enhancers	Fetal Heart	heart
3	chr6:69428000-69430000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:69428200-69429400	Enhancers	Brain Germinal Matrix	brain
5	chr6:69428800-69435000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:69429000-69429400	Weak transcription	K562	blood
7	chr6:69429000-69432800	Weak transcription	Fetal Lung	lung
8	chr6:69429000-69435400	Weak transcription	Brain Angular Gyrus	brain
9	chr6:69429000-69435400	Weak transcription	Fetal Brain Female	brain
10	chr6:69429200-69434000	Weak transcription	NHDF-Ad	bronchial
11	chr6:69429200-69435400	Weak transcription	Fetal Brain Male	brain

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