Variant report

Variant	rs74103238
Chromosome Location	chr12:84275280-84275281
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11829990	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830632	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11835937	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838334	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55778413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56181143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57326082	1.00[AMR][1000 genomes]
rs58064044	1.00[AMR][1000 genomes]
rs60934342	1.00[AMR][1000 genomes]
rs67246516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74105125	1.00[AMR][1000 genomes]
rs74105134	1.00[AMR][1000 genomes]
rs74105171	1.00[AMR][1000 genomes]
rs74105177	1.00[AMR][1000 genomes]
rs74106913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74106929	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74106931	1.00[AMR][1000 genomes]
rs74107299	1.00[AMR][1000 genomes]
rs74107575	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107577	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107578	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107580	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107581	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74107582	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108914	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109428	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559563	chr12:84017043-84450824	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1037138	chr12:84035912-84429867	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv541553	chr12:84035912-84429867	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1035818	chr12:84040289-84452115	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559564	chr12:84042109-84441408	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1035252	chr12:84043334-84446432	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1041804	chr12:84050772-84466603	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1039889	chr12:84053336-84426064	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv541554	chr12:84053336-84426064	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1049383	chr12:84062416-84290464	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv899358	chr12:84161715-84301305	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv832473	chr12:84166845-84321005	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv899360	chr12:84189646-84325682	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv899361	chr12:84189646-84729668	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv1049357	chr12:84195945-84365435	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv469498	chr12:84213699-84359892	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv559569	chr12:84213699-84359892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv899362	chr12:84231625-84343247	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3398276	chr12:84238465-84404040	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv1036812	chr12:84260079-84387371	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv541555	chr12:84260079-84387371	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	1 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	chr12:84273600-84275400	Enhancers	NHEK	skin
2	chr12:84273600-84275600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:84273800-84275400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:84274800-84275400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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