Variant report

Variant	rs1973576
Chromosome Location	chr17:46509733-46509734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46505182..46508070-chr17:46508849..46511744,2	K562	blood:
2	chr17:46505182..46508631-chr17:46508849..46512538,4	K562	blood:
3	chr17:46432035..46433984-chr17:46508339..46510187,2	K562	blood:
4	chr17:46509583..46511402-chr17:46522704..46524795,2	K562	blood:

Variant related genes	Relation type
ENSG00000141293	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1027894	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079819	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11079820	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1110921	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650663	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654288	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655120	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655137	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656589	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449743	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449855	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12451731	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452566	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12452848	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12453784	1.00[ASN][1000 genomes]
rs16954446	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28413063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28577013	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28613168	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35772538	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132677	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56727666	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57559912	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59042469	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6504259	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207949	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208499	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7208758	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7212398	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7213936	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214922	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7215843	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217664	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221156	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222296	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7222830	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224936	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225940	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7226288	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8065457	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8069796	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8070322	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071222	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073671	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8073979	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8079940	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8081430	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082050	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9747388	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891857	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9895449	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9897131	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9902082	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9904494	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9906587	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9909089	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9910351	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911663	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9911712	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914121	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9914154	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9915778	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916572	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916667	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv2761960	chr17:46504489-46529846	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 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	chr17:46506000-46510200	Weak transcription	K562	blood
2	chr17:46508000-46509800	Enhancers	Fetal Thymus	thymus
3	chr17:46508000-46511800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:46508000-46517000	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr17:46508000-46517800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:46508200-46510600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:46508200-46517000	Weak transcription	Pancreas	Pancrea
8	chr17:46508200-46517200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr17:46508200-46517800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr17:46508400-46512600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr17:46508400-46513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:46508400-46513800	Weak transcription	GM12878-XiMat	blood
13	chr17:46508600-46510600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:46508800-46510800	Enhancers	Primary T cells from cord blood	blood
15	chr17:46509000-46511600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:46509200-46509800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:46509200-46510200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr17:46509200-46513800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:46509400-46512600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr17:46509400-46513600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr17:46509600-46510600	Weak transcription	Primary T cells fromperipheralblood	blood

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