Variant report

Variant	rs517342
Chromosome Location	chr19:40669746-40669747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10414087	1.00[ASN][1000 genomes]
rs10418532	1.00[ASN][1000 genomes]
rs10421829	1.00[ASN][1000 genomes]
rs10424773	1.00[ASN][1000 genomes]
rs11881677	1.00[ASN][1000 genomes]
rs11882464	1.00[ASN][1000 genomes]
rs11882490	1.00[ASN][1000 genomes]
rs163212	1.00[ASN][1000 genomes]
rs17756648	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs234329	1.00[ASN][1000 genomes]
rs234338	1.00[ASN][1000 genomes]
rs2531363	1.00[ASN][1000 genomes]
rs28669038	1.00[ASN][1000 genomes]
rs337796	1.00[ASN][1000 genomes]
rs339520	0.91[EUR][1000 genomes]
rs383975	1.00[ASN][1000 genomes]
rs399405	1.00[ASN][1000 genomes]
rs420413	1.00[ASN][1000 genomes]
rs445379	1.00[ASN][1000 genomes]
rs520877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs526467	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532235	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs563703	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589279	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs589404	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106576	1.00[ASN][1000 genomes]
rs62106577	1.00[ASN][1000 genomes]
rs62106578	1.00[ASN][1000 genomes]
rs62106580	0.83[ASN][1000 genomes]
rs62106581	0.83[ASN][1000 genomes]
rs62106584	1.00[ASN][1000 genomes]
rs62106585	1.00[ASN][1000 genomes]
rs62106586	1.00[ASN][1000 genomes]
rs62106587	1.00[ASN][1000 genomes]
rs62106588	1.00[ASN][1000 genomes]
rs62106589	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106591	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106626	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62108934	1.00[ASN][1000 genomes]
rs62110063	1.00[ASN][1000 genomes]
rs623196	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649239	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6508931	1.00[ASN][1000 genomes]
rs6508932	1.00[ASN][1000 genomes]
rs667850	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250244	1.00[ASN][1000 genomes]
rs7250298	1.00[ASN][1000 genomes]
rs7259136	1.00[ASN][1000 genomes]
rs7260610	1.00[ASN][1000 genomes]
rs73551672	0.83[ASN][1000 genomes]
rs73553618	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103746	1.00[ASN][1000 genomes]
rs8103807	1.00[ASN][1000 genomes]
rs8105260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108062	1.00[ASN][1000 genomes]
rs8108857	1.00[ASN][1000 genomes]

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	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
7	nsv528831	chr19:40665924-40684919	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40654200-40673400	Weak transcription	Right Atrium	heart
2	chr19:40667400-40670200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:40667400-40671800	Enhancers	Primary B cells from cord blood	blood
4	chr19:40667400-40671800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:40667600-40670000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr19:40667600-40670200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr19:40667600-40670200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr19:40667600-40670600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:40667600-40671800	Enhancers	Primary B cells from peripheral blood	blood
10	chr19:40668000-40676800	Weak transcription	HepG2	liver
11	chr19:40668200-40670000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr19:40668400-40671800	Enhancers	GM12878-XiMat	blood
13	chr19:40668600-40670000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr19:40668600-40670000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:40668600-40670400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr19:40668800-40669800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40668800-40670000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr19:40669200-40669800	Enhancers	A549	lung
19	chr19:40669200-40670000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr19:40669200-40671600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr19:40669400-40669800	Enhancers	Primary hematopoietic stem cells	blood

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