Variant report

Variant	rs12948470
Chromosome Location	chr17:46514757-46514758
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46466673..46468665-chr17:46514612..46517414,2	K562	blood:
2	chr17:46511985..46515396-chr17:46515822..46520337,5	K562	blood:
3	chr17:46503026..46505286-chr17:46512719..46514914,2	K562	blood:
4	chr17:46514248..46517781-chr17:46547190..46550869,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1022087	0.85[AFR][1000 genomes]
rs12938165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12941129	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12941208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12941352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12941742	0.85[AFR][1000 genomes]
rs12946679	0.87[AFR][1000 genomes]
rs12947993	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12948331	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12950437	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34018531	0.91[AFR][1000 genomes]
rs34042333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34171724	0.82[AFR][1000 genomes]
rs34206844	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34238294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34287661	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34312987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34367404	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34488822	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34507526	0.85[AFR][1000 genomes]
rs34583963	0.91[AFR][1000 genomes]
rs34641642	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34736152	0.91[AFR][1000 genomes]
rs34938374	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34981051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35048726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35403206	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35441072	0.80[AFR][1000 genomes]
rs35457430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35460744	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35513747	0.87[AFR][1000 genomes]
rs35532660	0.87[AFR][1000 genomes]
rs35588100	0.82[AFR][1000 genomes]
rs35625427	0.91[AFR][1000 genomes]
rs36052366	0.87[AFR][1000 genomes]
rs55657194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56310092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61037617	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377353	0.87[AFR][1000 genomes]
rs71377358	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71377364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8080031	0.82[AFR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46508000-46517000	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr17:46508000-46517800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr17:46508200-46517000	Weak transcription	Pancreas	Pancrea
4	chr17:46508200-46517200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr17:46508200-46517800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr17:46510200-46517600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr17:46510600-46519000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:46510600-46524000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr17:46511600-46518000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr17:46512400-46518000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:46512600-46516800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr17:46512600-46517200	Enhancers	Primary T cells from cord blood	blood
13	chr17:46512600-46524200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:46512800-46515800	Weak transcription	K562	blood
15	chr17:46513600-46523800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:46513800-46514800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr17:46513800-46516800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr17:46513800-46520800	Enhancers	Fetal Thymus	thymus
19	chr17:46514200-46516600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr17:46514200-46519000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr17:46514400-46515600	Weak transcription	GM12878-XiMat	blood
22	chr17:46514600-46515600	Weak transcription	Thymus	Thymus

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