Variant report

Variant	rs1284976
Chromosome Location	chr6:45079395-45079396
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs1102212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1159132	0.86[EUR][1000 genomes]
rs1284956	0.83[EUR][1000 genomes]
rs1284957	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1284958	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1284959	0.88[EUR][1000 genomes]
rs1284963	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1284970	0.88[EUR][1000 genomes]
rs1284971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1284977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1284978	0.86[EUR][1000 genomes]
rs1284981	0.88[EUR][1000 genomes]
rs1284984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1284985	0.88[EUR][1000 genomes]
rs1284991	0.88[EUR][1000 genomes]
rs1284994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1284996	0.88[EUR][1000 genomes]
rs1284997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1284998	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1285001	0.88[EUR][1000 genomes]
rs1285012	0.88[EUR][1000 genomes]
rs1285015	0.88[EUR][1000 genomes]
rs1285016	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1285017	0.88[EUR][1000 genomes]
rs1329708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1329712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1360198	0.86[EUR][1000 genomes]
rs1411150	0.88[EUR][1000 genomes]
rs1475533	0.86[EUR][1000 genomes]
rs1475534	0.86[EUR][1000 genomes]
rs1536904	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1536906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1548285	0.86[EUR][1000 genomes]
rs1576380	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1576381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1625102	0.88[EUR][1000 genomes]
rs1629619	0.88[EUR][1000 genomes]
rs1630758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1632504	0.88[EUR][1000 genomes]
rs1748241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1748246	0.88[EUR][1000 genomes]
rs1797155	0.88[EUR][1000 genomes]
rs1797157	0.88[EUR][1000 genomes]
rs1797160	0.88[EUR][1000 genomes]
rs1797162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2183295	0.86[EUR][1000 genomes]
rs2396368	0.83[EUR][1000 genomes]
rs2396378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2763135	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4296887	0.83[EUR][1000 genomes]
rs4323299	0.88[EUR][1000 genomes]
rs4437465	0.88[EUR][1000 genomes]
rs4452642	0.88[EUR][1000 genomes]
rs4469289	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4520015	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4711808	0.86[EUR][1000 genomes]
rs4711811	0.88[EUR][1000 genomes]
rs4711812	0.88[EUR][1000 genomes]
rs4714831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4714835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4714849	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs540247	0.86[EUR][1000 genomes]
rs56000304	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs56051040	0.92[EUR][1000 genomes]
rs56142650	0.92[EUR][1000 genomes]
rs56218508	1.00[AFR][1000 genomes]
rs56300352	0.92[EUR][1000 genomes]
rs564286	0.86[EUR][1000 genomes]
rs592240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs609571	0.86[EUR][1000 genomes]
rs625782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6458416	0.86[EUR][1000 genomes]
rs685327	0.86[EUR][1000 genomes]
rs686938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6902685	0.86[EUR][1000 genomes]
rs6903524	0.81[EUR][1000 genomes]
rs6908280	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6912845	0.88[EUR][1000 genomes]
rs6932726	0.86[EUR][1000 genomes]
rs6933742	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72857008	1.00[AFR][1000 genomes]
rs72857044	1.00[AFR][1000 genomes]
rs72857059	1.00[AFR][1000 genomes]
rs72857063	0.92[EUR][1000 genomes]
rs72857065	1.00[AFR][1000 genomes]
rs72857066	1.00[AFR][1000 genomes]
rs72858503	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72858507	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72858522	1.00[AFR][1000 genomes]
rs72858523	1.00[AFR][1000 genomes]
rs72858529	1.00[AFR][1000 genomes]
rs72858566	1.00[AFR][1000 genomes]
rs72865965	1.00[AFR][1000 genomes]
rs72865980	1.00[AFR][1000 genomes]
rs72867405	1.00[AFR][1000 genomes]
rs72867426	1.00[AFR][1000 genomes]
rs72867440	1.00[AFR][1000 genomes]
rs72867449	1.00[AFR][1000 genomes]
rs72867458	1.00[AFR][1000 genomes]
rs72867470	1.00[AFR][1000 genomes]
rs72867485	1.00[AFR][1000 genomes]
rs72869128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72869130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72869143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72870914	1.00[AFR][1000 genomes]
rs72870922	1.00[AFR][1000 genomes]
rs7739872	0.86[EUR][1000 genomes]
rs7753900	0.88[EUR][1000 genomes]
rs7756721	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7763079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7765383	0.83[EUR][1000 genomes]
rs7775597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs857318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9296454	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9349320	0.83[EUR][1000 genomes]
rs9357463	0.86[EUR][1000 genomes]
rs9357465	0.88[EUR][1000 genomes]
rs9357468	0.88[EUR][1000 genomes]
rs9369525	0.86[EUR][1000 genomes]
rs9369527	0.86[EUR][1000 genomes]
rs9369554	0.83[EUR][1000 genomes]
rs9369557	0.86[EUR][1000 genomes]
rs9381355	0.80[EUR][1000 genomes]
rs9381356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9381363	0.88[EUR][1000 genomes]
rs9395061	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9472429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9472459	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1026728	chr6:45001948-45126730	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538213	chr6:45001948-45126730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv885865	chr6:45012223-45102025	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
14	nsv528130	chr6:45056086-45083966	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45073400-45083600	Weak transcription	Pancreas	Pancrea
2	chr6:45076600-45082800	Weak transcription	Dnd41	blood
3	chr6:45077800-45083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:45078400-45079600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:45078400-45083400	Weak transcription	HSMM	muscle
6	chr6:45078600-45080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:45078800-45079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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