Variant report

Variant	rs2750074
Chromosome Location	chr20:41528548-41528549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:41524333..41525845-chr20:41525883..41528573,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11086853	1.00[EUR][1000 genomes]
rs11905939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11906028	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11907313	1.00[EUR][1000 genomes]
rs11907352	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11908022	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11908081	0.85[GIH][hapmap]
rs11908420	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs172271	1.00[EUR][1000 genomes]
rs1812007	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs206637	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs206640	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs206652	1.00[GIH][hapmap]
rs206663	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs206664	1.00[EUR][1000 genomes]
rs206665	1.00[EUR][1000 genomes]
rs206667	1.00[EUR][1000 genomes]
rs206670	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs206676	1.00[EUR][1000 genomes]
rs206677	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs206678	1.00[EUR][1000 genomes]
rs206680	1.00[EUR][1000 genomes]
rs206683	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs206684	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs208202	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs208205	1.00[EUR][1000 genomes]
rs208206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs208207	1.00[EUR][1000 genomes]
rs208208	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs208212	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs208213	0.85[AMR][1000 genomes]
rs484898	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs488232	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs511805	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs527652	0.85[AMR][1000 genomes]
rs535000	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs558832	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs56050355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56137824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56265801	1.00[EUR][1000 genomes]
rs57007282	0.87[EUR][1000 genomes]
rs58163550	1.00[EUR][1000 genomes]
rs58589364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58770909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58915514	1.00[EUR][1000 genomes]
rs58920280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59601716	1.00[EUR][1000 genomes]
rs6016914	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6016915	1.00[EUR][1000 genomes]
rs6016916	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6016917	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6030533	0.87[EUR][1000 genomes]
rs6030541	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6030544	1.00[EUR][1000 genomes]
rs6030546	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6030547	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6030548	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6030549	1.00[CEU][hapmap]
rs6030551	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs60468658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6103098	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61297153	1.00[EUR][1000 genomes]
rs61687918	0.87[EUR][1000 genomes]
rs7272450	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73271801	0.87[AMR][1000 genomes]
rs73907290	1.00[EUR][1000 genomes]
rs73907291	1.00[EUR][1000 genomes]
rs73907292	1.00[EUR][1000 genomes]
rs73907293	1.00[EUR][1000 genomes]
rs73907294	1.00[EUR][1000 genomes]
rs73907295	1.00[EUR][1000 genomes]
rs73907298	1.00[EUR][1000 genomes]
rs73907299	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73907301	1.00[EUR][1000 genomes]
rs73907302	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73907405	1.00[AMR][1000 genomes]
rs73907407	1.00[AMR][1000 genomes]
rs73907417	0.87[AMR][1000 genomes]
rs73910603	1.00[EUR][1000 genomes]
rs73910609	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73910612	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73910613	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73910614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910616	1.00[AMR][1000 genomes]
rs73910620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910621	1.00[EUR][1000 genomes]
rs73910623	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73910632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8115069	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8115133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8115220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8121056	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8124627	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap]
rs965018	0.85[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058990	chr20:41289969-41543912	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv544277	chr20:41289969-41543912	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1063450	chr20:41409901-41880620	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1060690	chr20:41413369-41851935	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1066088	chr20:41417205-42060036	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv1060468	chr20:41518010-41700012	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1061053	chr20:41521471-41704874	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 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	chr20:41523600-41529000	Weak transcription	Pancreas	Pancrea
2	chr20:41526400-41530600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr20:41528400-41528600	Enhancers	Fetal Stomach	stomach
4	chr20:41528400-41529600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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