Variant report

Variant	rs57165791
Chromosome Location	chr11:49246693-49246694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1164657	0.82[ASN][1000 genomes]
rs12099184	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12573896	0.84[ASN][1000 genomes]
rs12574928	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12577182	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12788284	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12790852	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12797369	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12801054	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12806285	0.82[ASN][1000 genomes]
rs12806991	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16906205	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17743650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs202694	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs202706	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs202715	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs202718	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs202721	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299649	0.85[ASN][1000 genomes]
rs34279527	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs34397699	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34460216	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34534443	0.82[ASN][1000 genomes]
rs34913116	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34966829	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35416991	0.84[AMR][1000 genomes]
rs35777887	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35839246	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs36067143	0.87[ASN][1000 genomes]
rs383028	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3862341	0.82[ASN][1000 genomes]
rs3903422	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs583850	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs617528	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs646131	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67736905	0.81[ASN][1000 genomes]
rs71477493	0.81[ASN][1000 genomes]
rs71477497	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs71477498	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs71479304	0.82[ASN][1000 genomes]
rs71479305	0.82[ASN][1000 genomes]
rs72908309	0.84[AMR][1000 genomes];0.89[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	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1044070	chr11:49147743-49448774	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv525454	chr11:49156039-49570587	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv518571	chr11:49162948-49627833	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758269	chr11:49212237-49468966	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2759825	chr11:49212237-49468966	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv972016	chr11:49246163-49330536	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49245200-49254600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:49245400-49251000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:49245600-49246800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:49245600-49247600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr11:49246000-49246800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:49246400-49247400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:49246600-49247200	Enhancers	Brain Hippocampus Middle	brain

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