Variant report

Variant	rs11994333
Chromosome Location	chr8:112004859-112004860
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1072047	1.00[EUR][1000 genomes]
rs11988217	1.00[EUR][1000 genomes]
rs11992030	1.00[EUR][1000 genomes]
rs11992423	1.00[EUR][1000 genomes]
rs11993102	1.00[EUR][1000 genomes]
rs11993181	1.00[EUR][1000 genomes]
rs11993334	1.00[EUR][1000 genomes]
rs11993388	1.00[EUR][1000 genomes]
rs11994698	1.00[EUR][1000 genomes]
rs11996209	1.00[EUR][1000 genomes]
rs11998055	1.00[EUR][1000 genomes]
rs11998337	1.00[EUR][1000 genomes]
rs11998359	1.00[EUR][1000 genomes]
rs1365736	1.00[EUR][1000 genomes]
rs1427189	1.00[EUR][1000 genomes]
rs16881058	0.90[YRI][hapmap];1.00[EUR][1000 genomes]
rs1991363	1.00[EUR][1000 genomes]
rs28547967	1.00[EUR][1000 genomes]
rs56184481	1.00[EUR][1000 genomes]
rs56298818	1.00[EUR][1000 genomes]
rs56734986	1.00[EUR][1000 genomes]
rs57140595	1.00[EUR][1000 genomes]
rs57484848	1.00[EUR][1000 genomes]
rs57905423	1.00[EUR][1000 genomes]
rs58124990	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58163906	1.00[EUR][1000 genomes]
rs60351304	1.00[EUR][1000 genomes]
rs6469342	1.00[EUR][1000 genomes]
rs6469343	1.00[EUR][1000 genomes]
rs6469344	1.00[EUR][1000 genomes]
rs6985652	1.00[EUR][1000 genomes]
rs6992503	1.00[EUR][1000 genomes]
rs73316607	1.00[EUR][1000 genomes]
rs73317247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73317294	1.00[EUR][1000 genomes]
rs73317962	1.00[EUR][1000 genomes]
rs73317974	1.00[EUR][1000 genomes]
rs73317977	1.00[EUR][1000 genomes]
rs73319771	1.00[EUR][1000 genomes]
rs73332950	1.00[EUR][1000 genomes]
rs73332956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73332960	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73703824	1.00[EUR][1000 genomes]
rs73703825	1.00[EUR][1000 genomes]
rs73703829	1.00[EUR][1000 genomes]
rs73706234	1.00[EUR][1000 genomes]
rs73706235	1.00[EUR][1000 genomes]
rs73706236	1.00[EUR][1000 genomes]
rs73706237	1.00[EUR][1000 genomes]
rs73706238	1.00[EUR][1000 genomes]
rs7833747	1.00[EUR][1000 genomes]
rs7837586	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs957737	1.00[EUR][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	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2754849	chr8:111817591-112088992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3418448	chr8:111834718-112112905	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv891295	chr8:111852200-112163801	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1028079	chr8:111939568-112098196	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv891296	chr8:111952230-112191432	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv2762764	chr8:111973389-112160284	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv891297	chr8:111987798-112157540	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv611885	chr8:111987798-112163801	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv891298	chr8:111987798-112163801	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv891299	chr8:111987798-112164746	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv891300	chr8:111987798-112171822	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv891301	chr8:111987798-112191432	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv891302	chr8:111987798-112238390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111995600-112009200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:112004600-112005000	Enhancers	Brain Substantia Nigra	brain
3	chr8:112004600-112005400	Flanking Active TSS	HepG2	liver
4	chr8:112004800-112005000	Enhancers	Brain Hippocampus Middle	brain

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