Variant report

Variant	rs1480385
Chromosome Location	chr8:50170466-50170467
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	chr8:50169460..50172760-chr8:50198302..50201832,3	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10092709	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10097641	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1021036	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1031926	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808750	0.80[EUR][1000 genomes]
rs10808757	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957383	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10957385	0.81[EUR][1000 genomes]
rs11777050	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11986211	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11998708	0.81[EUR][1000 genomes]
rs12375307	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12541915	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12546213	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547293	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12674878	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12679153	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13253465	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13254483	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13258781	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13261261	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13263971	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13272410	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1480386	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906585	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906613	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1842400	0.80[ASN][1000 genomes]
rs2222291	0.81[CEU][hapmap]
rs2385330	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2385331	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2662897	0.83[ASN][1000 genomes]
rs2726705	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2726710	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs34086229	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34527186	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34893562	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35141848	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35395861	0.81[EUR][1000 genomes]
rs35575648	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4256605	0.80[EUR][1000 genomes]
rs4501593	0.80[EUR][1000 genomes]
rs4506233	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873341	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55987135	0.80[EUR][1000 genomes]
rs62508747	0.80[EUR][1000 genomes]
rs6981407	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982179	0.80[ASN][1000 genomes]
rs7007288	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7015183	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817650	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7818564	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7828104	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7833419	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7836969	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7844505	0.81[EUR][1000 genomes]
rs9792189	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9792221	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs985986	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025068	chr8:49953397-50370208	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1034908	chr8:50023423-50416049	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv539601	chr8:50023423-50416049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1024410	chr8:50037085-50511501	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv428517	chr8:50094920-50232993	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv890855	chr8:50109365-50252962	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv890856	chr8:50133485-50272497	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890857	chr8:50133485-50469764	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:50169800-50171000	Enhancers	Fetal Intestine Large	intestine
2	chr8:50169800-50171400	Enhancers	Fetal Intestine Small	intestine
3	chr8:50170000-50171200	Enhancers	Stomach Mucosa	stomach
4	chr8:50170400-50171000	Enhancers	K562	blood
5	chr8:50170400-50171200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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