Variant report

Variant	rs9625478
Chromosome Location	chr22:28862768-28862769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10483151	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12165708	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12165715	0.83[CEU][hapmap]
rs12165893	0.83[CEU][hapmap]
rs12166129	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166245	0.83[CEU][hapmap]
rs12166363	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12166475	0.83[CEU][hapmap]
rs12167667	0.91[EUR][1000 genomes]
rs12168708	0.82[EUR][1000 genomes]
rs12168765	0.80[CEU][hapmap]
rs12169460	0.83[CEU][hapmap]
rs12169595	0.94[EUR][1000 genomes]
rs12169966	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12170637	0.83[CEU][hapmap]
rs1297607	0.83[CEU][hapmap]
rs134197	1.00[CEU][hapmap]
rs134488	0.83[CEU][hapmap]
rs134506	0.83[CEU][hapmap]
rs134514	0.83[CEU][hapmap]
rs134524	0.83[CEU][hapmap]
rs134547	0.83[CEU][hapmap]
rs1474961	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16986398	0.83[CEU][hapmap]
rs16986509	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17413461	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2013784	0.83[CEU][hapmap]
rs2144922	0.83[CEU][hapmap]
rs55738739	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56391942	0.82[EUR][1000 genomes]
rs57871917	0.84[AMR][1000 genomes]
rs59262169	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60042154	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6005807	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs6519753	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7289534	0.83[CEU][hapmap]
rs7289625	0.83[CEU][hapmap]
rs7291268	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7293232	0.83[CEU][hapmap]
rs73430123	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73430136	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73430155	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73430186	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73437900	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73439811	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs738200	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs738627	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8137200	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8137808	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9306457	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620797	0.90[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620799	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620803	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620804	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9620808	0.83[CEU][hapmap]
rs9620809	0.91[EUR][1000 genomes]
rs9620810	0.83[CEU][hapmap]
rs9620811	0.83[CEU][hapmap]
rs9625447	1.00[CEU][hapmap]
rs9625467	0.91[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625475	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625477	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625481	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625484	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9625487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625492	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9625501	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9625508	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9625510	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9625512	0.83[CEU][hapmap]
rs9625513	0.83[CEU][hapmap]
rs9625515	0.89[EUR][1000 genomes]
rs9625516	0.91[EUR][1000 genomes]
rs9625520	0.83[CEU][hapmap]
rs9625521	0.83[CEU][hapmap]
rs9625522	0.83[CEU][hapmap]
rs9625523	0.83[CEU][hapmap]
rs9625524	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 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	chr22:28860000-28863000	Enhancers	Fetal Intestine Large	intestine
2	chr22:28860000-28863400	Enhancers	Fetal Intestine Small	intestine
3	chr22:28860400-28866000	Weak transcription	Fetal Stomach	stomach
4	chr22:28861200-28863200	Enhancers	Fetal Brain Male	brain
5	chr22:28861400-28875800	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:28861600-28880200	Weak transcription	Ovary	ovary
7	chr22:28861800-28862800	Enhancers	Fetal Brain Female	brain
8	chr22:28862000-28869800	Weak transcription	Small Intestine	intestine
9	chr22:28862400-28862800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr22:28862400-28862800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:28862600-28865000	Weak transcription	Brain Germinal Matrix	brain
12	chr22:28862600-28867600	Weak transcription	Fetal Kidney	kidney

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