Variant report

Variant	rs72993821
Chromosome Location	chr6:149476152-149476153
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149465135..149466715-chr6:149474262..149476681,2	K562	blood:
2	chr6:149459494..149462226-chr6:149474198..149476247,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11155624	0.89[EUR][1000 genomes]
rs11155626	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155630	0.96[ASN][1000 genomes]
rs12189850	0.89[EUR][1000 genomes]
rs12190751	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12195850	0.96[ASN][1000 genomes]
rs12196284	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196893	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12200379	0.96[ASN][1000 genomes]
rs12203266	0.89[EUR][1000 genomes]
rs12203302	0.89[EUR][1000 genomes]
rs12203458	0.89[EUR][1000 genomes]
rs12205636	0.89[EUR][1000 genomes]
rs12206852	0.87[EUR][1000 genomes]
rs12208882	0.89[EUR][1000 genomes]
rs12208962	0.89[EUR][1000 genomes]
rs12210317	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213636	0.96[ASN][1000 genomes]
rs12216095	0.89[EUR][1000 genomes]
rs12216166	0.89[EUR][1000 genomes]
rs35733790	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073251	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4400235	0.89[EUR][1000 genomes]
rs4470876	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4537169	0.89[EUR][1000 genomes]
rs4579380	0.87[EUR][1000 genomes]
rs57241335	0.89[EUR][1000 genomes]
rs57369633	0.89[EUR][1000 genomes]
rs57471912	0.89[EUR][1000 genomes]
rs58638760	0.88[ASN][1000 genomes]
rs59828569	0.89[EUR][1000 genomes]
rs6900527	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6909527	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919190	0.89[EUR][1000 genomes]
rs6919690	0.89[EUR][1000 genomes]
rs72989962	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72989978	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993840	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73004281	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004286	0.89[EUR][1000 genomes]
rs73600091	0.96[ASN][1000 genomes]
rs73779024	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743674	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7753909	0.89[EUR][1000 genomes]
rs7754166	0.89[EUR][1000 genomes]
rs7758462	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7761635	0.89[EUR][1000 genomes]
rs7761698	0.89[EUR][1000 genomes]
rs7762164	0.89[EUR][1000 genomes]
rs7764138	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7766254	0.89[EUR][1000 genomes]
rs7768166	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7774537	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7776204	0.96[ASN][1000 genomes]
rs9390657	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918331	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1034080	chr6:149456387-149480990	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149467600-149476400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:149472000-149476800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:149473000-149476400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:149473200-149476600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:149473400-149476200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr6:149473600-149476400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr6:149473600-149476400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr6:149474000-149476200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr6:149474200-149476400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr6:149474400-149476200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr6:149474400-149476200	Enhancers	Dnd41	blood
12	chr6:149474600-149476200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:149474600-149476200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:149475200-149476400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:149476000-149477200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:149476000-149477600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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