Variant report

Variant	rs11115322
Chromosome Location	chr12:83019188-83019189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10219533	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10219763	1.00[EUR][1000 genomes]
rs10219764	1.00[EUR][1000 genomes]
rs10862495	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11115323	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11115326	1.00[EUR][1000 genomes]
rs11830905	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12302190	1.00[EUR][1000 genomes]
rs12424304	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12425234	0.82[EUR][1000 genomes]
rs12425854	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12579330	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12579941	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12580500	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12581158	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74106552	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74106553	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74106580	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74106581	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs74106584	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv519197	chr12:82831845-83056476	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1053649	chr12:82893253-83054109	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv899349	chr12:82931646-83114286	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Immune response to smallpox vaccine (IL-6)	22542470	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83017200-83019200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:83017400-83019400	Weak transcription	Gastric	stomach
3	chr12:83018400-83019200	Enhancers	Brain Hippocampus Middle	brain
4	chr12:83018400-83020400	Enhancers	Brain Substantia Nigra	brain
5	chr12:83018600-83019600	Enhancers	Brain Angular Gyrus	brain
6	chr12:83018600-83019800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:83018600-83020800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:83018800-83019400	Weak transcription	Stomach Mucosa	stomach
9	chr12:83019000-83019400	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr12:83019000-83019400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:83019000-83019600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:83019000-83019600	Active TSS	Brain Anterior Caudate	brain

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