Variant report

Variant	rs1284998
Chromosome Location	chr6:45092307-45092308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45092014..45095175-chr6:45095501..45098870,4	K562	blood:
2	chr6:45091825..45094517-chr6:45344694..45347186,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1102212	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1284957	0.83[EUR][1000 genomes]
rs1284958	0.88[EUR][1000 genomes]
rs1284963	0.85[EUR][1000 genomes]
rs1284971	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1284976	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1284977	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1284984	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1284994	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1284997	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1285016	0.88[EUR][1000 genomes]
rs1329708	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1329712	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1536904	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1536906	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1576380	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1576381	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1630758	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1748241	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1797162	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2396378	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2763135	0.92[EUR][1000 genomes]
rs4469289	0.92[EUR][1000 genomes]
rs4714831	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4714835	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4714849	0.88[EUR][1000 genomes]
rs56000304	0.88[EUR][1000 genomes]
rs56051040	0.92[EUR][1000 genomes]
rs56142650	0.92[EUR][1000 genomes]
rs56300352	0.92[EUR][1000 genomes]
rs592240	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs625782	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs686938	1.00[AMR][1000 genomes]
rs6903524	0.86[EUR][1000 genomes]
rs6908280	0.85[EUR][1000 genomes]
rs6933742	0.85[EUR][1000 genomes]
rs72857063	0.88[EUR][1000 genomes]
rs72858503	0.92[EUR][1000 genomes]
rs72858507	0.92[EUR][1000 genomes]
rs72869128	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72869130	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72869143	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7756721	0.85[EUR][1000 genomes]
rs7763079	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7775597	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs857318	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9296454	0.85[EUR][1000 genomes]
rs9381356	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9395061	0.85[AMR][1000 genomes]
rs9472429	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9472430	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9472459	0.80[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	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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45089000-45099400	Weak transcription	Fetal Heart	heart
2	chr6:45092000-45092400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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