Variant report

Variant	rs9908054
Chromosome Location	chr17:46514226-46514227
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	chr17:46511985..46515396-chr17:46515822..46520337,5	K562	blood:
2	chr17:46503026..46505286-chr17:46512719..46514914,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12326027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954937	1.00[ASN][1000 genomes]
rs16955293	1.00[ASN][1000 genomes]
rs16955495	1.00[ASN][1000 genomes]
rs16956835	1.00[ASN][1000 genomes]
rs28566062	1.00[ASN][1000 genomes]
rs6504258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210852	1.00[ASN][1000 genomes]
rs7213163	1.00[EUR][1000 genomes]
rs7214998	1.00[ASN][1000 genomes]
rs8073595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074088	1.00[EUR][1000 genomes]
rs8074754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8074951	1.00[ASN][1000 genomes]
rs9303545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9891014	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9891149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9895188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9898743	1.00[EUR][1000 genomes]
rs9901714	1.00[EUR][1000 genomes]
rs9901750	1.00[EUR][1000 genomes]
rs9903647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9908741	1.00[EUR][1000 genomes]
rs9911434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916477	1.00[EUR][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	chr17:46513800-46514400	Enhancers	GM12878-XiMat	blood
17	chr17:46513800-46514800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
18	chr17:46513800-46516800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr17:46513800-46520800	Enhancers	Fetal Thymus	thymus
20	chr17:46514000-46514600	Enhancers	Thymus	Thymus
21	chr17:46514200-46516600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:46514200-46519000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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