Variant report

Variant	rs7250298
Chromosome Location	chr19:40647161-40647162
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	chr19:40645584..40647584-chr19:40649751..40651905,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10414087	1.00[ASN][1000 genomes]
rs10418532	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10421829	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10424773	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881677	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11882464	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882490	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs163212	1.00[ASN][1000 genomes]
rs17756648	0.83[ASN][1000 genomes]
rs234329	1.00[ASN][1000 genomes]
rs234338	1.00[ASN][1000 genomes]
rs2531363	1.00[ASN][1000 genomes]
rs28669038	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs337796	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs383975	1.00[ASN][1000 genomes]
rs399405	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs420413	1.00[ASN][1000 genomes]
rs445379	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs517342	1.00[ASN][1000 genomes]
rs520877	1.00[ASN][1000 genomes]
rs526467	1.00[ASN][1000 genomes]
rs532235	1.00[ASN][1000 genomes]
rs563703	1.00[ASN][1000 genomes]
rs589279	1.00[ASN][1000 genomes]
rs589404	1.00[ASN][1000 genomes]
rs62106576	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106577	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106578	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106580	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62106581	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62106584	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106585	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62106586	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106587	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106588	1.00[ASN][1000 genomes]
rs62106589	1.00[ASN][1000 genomes]
rs62106590	1.00[ASN][1000 genomes]
rs62106591	1.00[ASN][1000 genomes]
rs62106625	1.00[ASN][1000 genomes]
rs62106626	1.00[ASN][1000 genomes]
rs62108934	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110063	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623196	1.00[ASN][1000 genomes]
rs636313	1.00[ASN][1000 genomes]
rs649239	1.00[ASN][1000 genomes]
rs6508931	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508932	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667850	1.00[ASN][1000 genomes]
rs7250244	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259136	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7260610	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73551672	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73553618	1.00[ASN][1000 genomes]
rs8103746	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103807	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104932	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8105260	1.00[ASN][1000 genomes]
rs8108062	1.00[ASN][1000 genomes]
rs8108857	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv3336591	chr19:40647161-40670363	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40646200-40647400	Weak transcription	Adipose Nuclei	Adipose
2	chr19:40646200-40647800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr19:40646200-40647800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:40646200-40648000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40646200-40648400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:40646400-40647400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr19:40646400-40648000	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:40647000-40647600	Active TSS	GM12878-XiMat	blood

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