Variant report

Variant	rs11990311
Chromosome Location	chr8:10549572-10549573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10549207..10552160-chr8:10577938..10579847,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090558	0.81[ASN][1000 genomes]
rs10094968	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097570	0.96[AFR][1000 genomes]
rs10097577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098956	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10103202	0.81[ASN][1000 genomes]
rs10107820	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111051	0.90[AFR][1000 genomes]
rs10216539	0.87[ASN][1000 genomes]
rs11994746	0.98[AFR][1000 genomes]
rs12680711	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28463918	0.87[ASN][1000 genomes]
rs28488675	0.94[ASN][1000 genomes]
rs28548758	0.81[ASN][1000 genomes]
rs28665435	0.87[ASN][1000 genomes]
rs34043696	0.87[ASN][1000 genomes]
rs35639780	0.80[ASN][1000 genomes]
rs59276210	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59329830	0.80[ASN][1000 genomes]
rs59455190	0.96[AFR][1000 genomes]
rs60270701	0.87[ASN][1000 genomes]
rs60410697	0.87[ASN][1000 genomes]
rs60672851	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60837490	0.81[ASN][1000 genomes]
rs6601505	0.93[ASN][1000 genomes]
rs6601507	0.93[ASN][1000 genomes]
rs6601508	0.93[ASN][1000 genomes]
rs6991320	0.87[ASN][1000 genomes]
rs7002378	0.93[ASN][1000 genomes]
rs7003456	0.93[ASN][1000 genomes]
rs7006325	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73530796	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73532605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73532619	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73532620	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73532622	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73536579	0.87[ASN][1000 genomes]
rs73541440	0.93[ASN][1000 genomes]
rs73541442	0.93[ASN][1000 genomes]
rs73541445	0.93[ASN][1000 genomes]
rs73541496	0.94[ASN][1000 genomes]
rs7815184	0.87[ASN][1000 genomes]
rs7820334	0.87[ASN][1000 genomes]
rs7822666	0.87[ASN][1000 genomes]
rs7828426	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv515898	chr8:10530037-10557407	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv465463	chr8:10535826-10567630	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv610272	chr8:10535826-10567630	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv465464	chr8:10537940-10565263	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv610273	chr8:10537940-10565263	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	6 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	chr8:10546800-10549600	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:10547200-10551000	Enhancers	Spleen	Spleen
3	chr8:10547400-10551600	Enhancers	Esophagus	oesophagus
4	chr8:10547800-10549800	Enhancers	HMEC	breast
5	chr8:10548000-10549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:10548200-10550000	Enhancers	Liver	Liver
7	chr8:10548400-10551400	Weak transcription	Gastric	stomach
8	chr8:10548800-10550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:10549000-10549800	Enhancers	NHEK	skin
10	chr8:10549000-10551800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:10549400-10550200	Enhancers	Hela-S3	cervix
12	chr8:10549400-10550400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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