Variant report

Variant	rs1284957
Chromosome Location	chr6:45170499-45170500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45170143..45173003-chr6:45173758..45175670,2	MCF-7	breast:
2	chr6:45169238..45172047-chr6:45343941..45345557,2	MCF-7	breast:
3	chr6:45163170..45165177-chr6:45169368..45170904,2	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1159132	0.83[EUR][1000 genomes]
rs1284956	0.81[EUR][1000 genomes]
rs1284958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1284959	0.86[EUR][1000 genomes]
rs1284963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1284970	0.86[EUR][1000 genomes]
rs1284971	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1284976	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1284977	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1284978	0.83[EUR][1000 genomes]
rs1284981	0.86[EUR][1000 genomes]
rs1284984	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs1284985	0.86[EUR][1000 genomes]
rs1284991	0.86[EUR][1000 genomes]
rs1284994	0.97[EUR][1000 genomes]
rs1284996	0.86[EUR][1000 genomes]
rs1284997	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1284998	0.83[EUR][1000 genomes]
rs1285001	0.86[EUR][1000 genomes]
rs1285012	0.86[EUR][1000 genomes]
rs1285015	0.86[EUR][1000 genomes]
rs1285016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1285017	0.86[EUR][1000 genomes]
rs1329708	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1329712	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1360198	0.83[EUR][1000 genomes]
rs1411150	0.86[EUR][1000 genomes]
rs1475533	0.83[EUR][1000 genomes]
rs1475534	0.83[EUR][1000 genomes]
rs1536906	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs1548285	0.83[EUR][1000 genomes]
rs1576380	0.94[EUR][1000 genomes]
rs1576381	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1625102	0.86[EUR][1000 genomes]
rs1629619	0.86[EUR][1000 genomes]
rs1630758	0.97[EUR][1000 genomes]
rs1632504	0.86[EUR][1000 genomes]
rs1748241	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1748246	0.86[EUR][1000 genomes]
rs1797155	0.86[EUR][1000 genomes]
rs1797157	0.86[EUR][1000 genomes]
rs1797160	0.86[EUR][1000 genomes]
rs1797162	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2183295	0.83[EUR][1000 genomes]
rs2396378	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2763135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4296887	0.80[EUR][1000 genomes]
rs4323299	0.86[EUR][1000 genomes]
rs4437465	0.86[EUR][1000 genomes]
rs4452642	0.86[EUR][1000 genomes]
rs4469289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4520015	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4711811	0.86[EUR][1000 genomes]
rs4711812	0.86[EUR][1000 genomes]
rs4714831	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4714835	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs4714849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56000304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56051040	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56142650	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56218508	1.00[AFR][1000 genomes]
rs56300352	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6908280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6912845	0.86[EUR][1000 genomes]
rs6932726	0.83[EUR][1000 genomes]
rs6933742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72857008	1.00[AFR][1000 genomes]
rs72857044	1.00[AFR][1000 genomes]
rs72857059	1.00[AFR][1000 genomes]
rs72857063	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72857065	1.00[AFR][1000 genomes]
rs72857066	1.00[AFR][1000 genomes]
rs72858503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72858507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[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]
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];0.87[EUR][1000 genomes]
rs72869130	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72869143	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72870914	1.00[AFR][1000 genomes]
rs72870922	1.00[AFR][1000 genomes]
rs7753900	0.86[EUR][1000 genomes]
rs7756721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7763079	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7765383	0.81[EUR][1000 genomes]
rs7775597	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9296454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9349320	0.80[EUR][1000 genomes]
rs9357465	0.86[EUR][1000 genomes]
rs9357468	0.86[EUR][1000 genomes]
rs9369527	0.83[EUR][1000 genomes]
rs9369554	0.81[EUR][1000 genomes]
rs9369557	0.83[EUR][1000 genomes]
rs9381356	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9381363	0.86[EUR][1000 genomes]
rs9395061	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9472429	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs9472430	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9472459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	nsv1028068	chr6:45169010-45246577	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45162000-45171800	Enhancers	Dnd41	blood
2	chr6:45169200-45174400	Weak transcription	HepG2	liver
3	chr6:45170400-45170800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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