Variant report

Variant	rs522282
Chromosome Location	chr6:44904480-44904481
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1159132	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1284978	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1284981	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1284985	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1284991	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1284996	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1285001	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1293582	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1329708	0.82[EUR][1000 genomes]
rs1360198	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1411150	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1475533	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1475534	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1536904	0.82[EUR][1000 genomes]
rs1536906	0.82[EUR][1000 genomes]
rs1548285	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1576380	0.82[EUR][1000 genomes]
rs1632504	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1640767	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1797155	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1797157	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2183295	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs227846	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2396368	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2461017	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3997494	0.90[EUR][1000 genomes]
rs4711808	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4711811	0.90[EUR][1000 genomes]
rs4711812	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4714835	0.82[EUR][1000 genomes]
rs480657	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs481914	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs482878	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs490515	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs510167	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs519122	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs527145	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs528158	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs538857	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs539002	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs540247	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs542910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs549243	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs551338	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs551955	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs553811	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs556352	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55641	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs557425	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs560765	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs563708	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs564286	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs569999	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs588813	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs589285	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs592240	0.82[EUR][1000 genomes]
rs603778	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs604040	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs604486	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs604873	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs609571	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs622051	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs625782	0.82[EUR][1000 genomes]
rs6458416	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs649617	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs652851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs655669	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs656463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs662599	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs669087	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs685327	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs686938	0.88[EUR][1000 genomes]
rs6902685	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6912845	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7739872	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs857604	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9357463	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9357465	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9357468	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9369525	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9369527	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9381355	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9381363	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033815	chr6:44845514-44938799	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv5286	chr6:44865290-44909915	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
7	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44895800-44910200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:44900600-44908600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:44901600-44904600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:44901600-44904800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:44902400-44904600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:44903400-44904600	Enhancers	Dnd41	blood
7	chr6:44904400-44904600	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:44904400-44918800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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