Variant report

Variant	rs13248516
Chromosome Location	chr8:19428564-19428565
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10088454	0.81[EUR][1000 genomes]
rs10089231	0.81[EUR][1000 genomes]
rs10095053	0.81[EUR][1000 genomes]
rs10096861	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10100589	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10104448	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10105363	0.80[AMR][1000 genomes]
rs10106622	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10109274	0.81[EUR][1000 genomes]
rs10503649	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10503651	0.81[EUR][1000 genomes]
rs11995671	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11996428	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997873	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12334362	0.81[EUR][1000 genomes]
rs12335266	0.99[ASN][1000 genomes]
rs13248137	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13263246	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13281882	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128604	0.81[EUR][1000 genomes]
rs17128609	0.81[EUR][1000 genomes]
rs17128707	0.90[EUR][1000 genomes]
rs28611430	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34524638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35086264	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35989102	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4282588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4461917	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4472532	0.81[EUR][1000 genomes]
rs4481614	0.81[EUR][1000 genomes]
rs56303837	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57087900	0.88[EUR][1000 genomes]
rs59703425	0.81[EUR][1000 genomes]
rs59810980	0.87[ASN][1000 genomes]
rs61309921	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66758432	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67210305	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67389428	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6980558	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992213	0.90[EUR][1000 genomes]
rs6993026	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995282	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6995903	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6996593	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996750	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004016	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7007808	0.85[ASN][1000 genomes]
rs7464041	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840615	0.84[EUR][1000 genomes]
rs9692698	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
3	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv890624	chr8:19319061-19456270	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv610753	chr8:19364883-19439977	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1018057	chr8:19370830-19435399	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1016276	chr8:19374998-19435147	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv890626	chr8:19383697-19483259	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	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	chr8:19379400-19434200	Weak transcription	Placenta	Placenta
2	chr8:19401400-19434000	Weak transcription	Hela-S3	cervix
3	chr8:19409000-19437400	Weak transcription	Gastric	stomach
4	chr8:19419200-19433400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:19419600-19433400	Weak transcription	Left Ventricle	heart
6	chr8:19419600-19435600	Weak transcription	Pancreas	Pancrea
7	chr8:19419800-19428800	Weak transcription	Primary B cells from cord blood	blood
8	chr8:19422200-19435600	Weak transcription	Right Atrium	heart
9	chr8:19422600-19442000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:19424600-19435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:19425800-19429200	Strong transcription	A549	lung
12	chr8:19427000-19429400	Weak transcription	Primary T cells from cord blood	blood
13	chr8:19427800-19436200	Weak transcription	Spleen	Spleen
14	chr8:19428200-19429600	Enhancers	Primary B cells from peripheral blood	blood
15	chr8:19428200-19430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr8:19428400-19436000	Weak transcription	Right Ventricle	heart

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