Variant report

Variant	rs2514654
Chromosome Location	chr8:105329338-105329339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:105329220..105329973-chr8:105341236..105341965,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10098676	1.00[ASN][1000 genomes]
rs10110136	1.00[ASN][1000 genomes]
rs13252000	1.00[ASN][1000 genomes]
rs13254398	1.00[ASN][1000 genomes]
rs13254492	1.00[ASN][1000 genomes]
rs13255005	1.00[ASN][1000 genomes]
rs13257022	1.00[ASN][1000 genomes]
rs13263278	1.00[ASN][1000 genomes]
rs13266788	1.00[ASN][1000 genomes]
rs13268935	1.00[ASN][1000 genomes]
rs13273838	1.00[ASN][1000 genomes]
rs13274374	1.00[ASN][1000 genomes]
rs13281700	1.00[ASN][1000 genomes]
rs1374520	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1374521	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1374526	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447064	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1447074	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447075	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1447078	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1530598	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1838933	0.83[EUR][1000 genomes]
rs1868011	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1868012	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1966072	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2001366	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044532	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2166642	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2166643	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2166645	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245311	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2262596	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2264167	1.00[ASN][1000 genomes]
rs2441833	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441836	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2441837	0.85[EUR][1000 genomes]
rs2441841	1.00[ASN][1000 genomes]
rs2441845	0.81[AFR][1000 genomes]
rs2441847	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441849	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441852	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441857	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441858	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441864	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441867	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441888	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441889	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441893	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2441894	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2458420	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2458421	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2511607	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2511608	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2511610	1.00[ASN][1000 genomes]
rs2511611	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2511617	1.00[ASN][1000 genomes]
rs2511618	1.00[ASN][1000 genomes]
rs2511620	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2511624	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2511627	1.00[ASN][1000 genomes]
rs2511628	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2511629	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2514655	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514660	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34576696	1.00[ASN][1000 genomes]
rs34829634	1.00[ASN][1000 genomes]
rs34868523	1.00[ASN][1000 genomes]
rs35468699	1.00[ASN][1000 genomes]
rs35595789	1.00[ASN][1000 genomes]
rs35635989	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090760	1.00[ASN][1000 genomes]
rs66921003	1.00[ASN][1000 genomes]
rs71520872	1.00[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	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1032775	chr8:105311364-105409972	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105327800-105330600	Enhancers	Stomach Smooth Muscle	stomach
2	chr8:105328000-105329400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:105328600-105329400	Enhancers	Fetal Stomach	stomach
4	chr8:105328600-105330000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:105328600-105331000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:105328800-105329400	Enhancers	Colon Smooth Muscle	Colon
7	chr8:105328800-105329400	Enhancers	Rectal Smooth Muscle	rectum
8	chr8:105328800-105337800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:105329200-105330000	Enhancers	Fetal Thymus	thymus
10	chr8:105329200-105330800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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