Variant report

Variant	rs10791720
Chromosome Location	chr11:104490876-104490877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10502036	0.81[EUR][1000 genomes]
rs10502037	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10791719	0.83[EUR][1000 genomes]
rs10895707	0.82[EUR][1000 genomes]
rs10895708	0.81[EUR][1000 genomes]
rs10895711	0.89[CEU][hapmap];0.84[CHB][hapmap];0.83[EUR][1000 genomes]
rs10895712	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10895713	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10895714	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10895715	0.83[EUR][1000 genomes]
rs11226430	0.81[EUR][1000 genomes]
rs11226431	0.81[EUR][1000 genomes]
rs11226433	0.81[EUR][1000 genomes]
rs11226439	0.83[EUR][1000 genomes]
rs11226441	0.83[EUR][1000 genomes]
rs11226442	0.83[EUR][1000 genomes]
rs11226443	0.83[EUR][1000 genomes]
rs11226445	0.83[EUR][1000 genomes]
rs11226448	0.83[EUR][1000 genomes]
rs11226450	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11226451	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11226452	0.83[EUR][1000 genomes]
rs11226456	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11226457	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11226459	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11226460	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11601632	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11607612	0.81[EUR][1000 genomes]
rs1200618	0.83[EUR][1000 genomes]
rs12286808	0.83[EUR][1000 genomes]
rs12361024	0.82[EUR][1000 genomes]
rs12364844	0.83[EUR][1000 genomes]
rs12364921	0.81[EUR][1000 genomes]
rs12366152	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12418899	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12798102	0.83[EUR][1000 genomes]
rs12799900	0.83[EUR][1000 genomes]
rs12803385	0.82[EUR][1000 genomes]
rs16894	0.83[EUR][1000 genomes]
rs17102731	0.83[EUR][1000 genomes]
rs17102776	0.82[EUR][1000 genomes]
rs1893461	0.81[EUR][1000 genomes]
rs1942502	0.83[EUR][1000 genomes]
rs1942520	0.83[EUR][1000 genomes]
rs1942521	0.83[EUR][1000 genomes]
rs2156127	0.82[EUR][1000 genomes]
rs2187131	0.82[EUR][1000 genomes]
rs2187132	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2187135	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34526738	0.81[EUR][1000 genomes]
rs34793132	0.81[EUR][1000 genomes]
rs55779335	0.81[EUR][1000 genomes]
rs56384112	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59832858	0.81[EUR][1000 genomes]
rs61893183	0.83[EUR][1000 genomes]
rs61893194	0.83[EUR][1000 genomes]
rs7119997	0.83[EUR][1000 genomes]
rs7927206	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7935104	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7939905	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9666573	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9667051	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043976	chr11:103881236-104526403	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1044271	chr11:104136156-104666252	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv898353	chr11:104274535-104497607	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1054278	chr11:104317164-104562129	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1053886	chr11:104328822-104562129	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1037091	chr11:104330237-104559477	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv556216	chr11:104333651-104560789	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1048500	chr11:104348766-104548809	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv832254	chr11:104412769-104607277	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10791720	CASP12	cis	cerebellum	SCAN
rs10791720	CARD16	cis	cerebellum	SCAN
rs10791720	CASP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104480600-104493000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:104480800-104493200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:104483400-104493400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:104488600-104491400	Weak transcription	Dnd41	blood
5	chr11:104489000-104491800	Enhancers	Brain Hippocampus Middle	brain
6	chr11:104489800-104491000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:104489800-104491000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:104489800-104491000	Weak transcription	Placenta	Placenta
9	chr11:104489800-104494000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:104490000-104491200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:104490000-104491400	Enhancers	Brain Substantia Nigra	brain
12	chr11:104490400-104491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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