Variant report

Variant	rs56051040
Chromosome Location	chr6:45205108-45205109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1284957	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1284958	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1284959	0.81[EUR][1000 genomes]
rs1284963	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1284970	0.81[EUR][1000 genomes]
rs1284971	0.97[EUR][1000 genomes]
rs1284976	0.92[EUR][1000 genomes]
rs1284977	0.92[EUR][1000 genomes]
rs1284981	0.81[EUR][1000 genomes]
rs1284984	0.92[EUR][1000 genomes]
rs1284985	0.81[EUR][1000 genomes]
rs1284991	0.81[EUR][1000 genomes]
rs1284994	0.92[EUR][1000 genomes]
rs1284996	0.81[EUR][1000 genomes]
rs1284997	0.97[EUR][1000 genomes]
rs1284998	0.92[EUR][1000 genomes]
rs1285001	0.81[EUR][1000 genomes]
rs1285012	0.81[EUR][1000 genomes]
rs1285015	0.81[EUR][1000 genomes]
rs1285016	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1285017	0.81[EUR][1000 genomes]
rs1329712	0.97[EUR][1000 genomes]
rs1411150	0.81[EUR][1000 genomes]
rs1625102	0.81[EUR][1000 genomes]
rs1629619	0.81[EUR][1000 genomes]
rs1630758	0.92[EUR][1000 genomes]
rs1632504	0.81[EUR][1000 genomes]
rs1748241	0.92[EUR][1000 genomes]
rs1748246	0.81[EUR][1000 genomes]
rs1797155	0.81[EUR][1000 genomes]
rs1797157	0.81[EUR][1000 genomes]
rs1797160	0.81[EUR][1000 genomes]
rs1797162	0.92[EUR][1000 genomes]
rs2396378	0.87[EUR][1000 genomes]
rs2763135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4323299	0.81[EUR][1000 genomes]
rs4437465	0.81[EUR][1000 genomes]
rs4452642	0.81[EUR][1000 genomes]
rs4469289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4520015	0.81[EUR][1000 genomes]
rs4711811	0.81[EUR][1000 genomes]
rs4711812	0.81[EUR][1000 genomes]
rs4714835	0.89[EUR][1000 genomes]
rs4714849	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56000304	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56142650	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56300352	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6903524	0.88[EUR][1000 genomes]
rs6908280	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6912845	0.81[EUR][1000 genomes]
rs6933742	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72857063	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72858503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72858507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72869128	0.97[EUR][1000 genomes]
rs72869130	0.97[EUR][1000 genomes]
rs72869143	0.97[EUR][1000 genomes]
rs73735310	0.93[AFR][1000 genomes]
rs73735313	0.93[AFR][1000 genomes]
rs73735316	0.93[AFR][1000 genomes]
rs73735320	0.86[AFR][1000 genomes]
rs73735324	0.93[AFR][1000 genomes]
rs73735328	0.93[AFR][1000 genomes]
rs73735335	0.93[AFR][1000 genomes]
rs73735352	0.93[AFR][1000 genomes]
rs73735353	0.93[AFR][1000 genomes]
rs7753900	0.81[EUR][1000 genomes]
rs7756721	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9296454	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9357465	0.81[EUR][1000 genomes]
rs9357468	0.81[EUR][1000 genomes]
rs9381363	0.81[EUR][1000 genomes]
rs9395061	0.80[EUR][1000 genomes]
rs9472429	0.92[EUR][1000 genomes]
rs9472430	0.97[EUR][1000 genomes]
rs9472459	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	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
6	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
7	esv2763550	chr6:45186825-45275593	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45196800-45207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45201200-45210000	Weak transcription	Ovary	ovary
3	chr6:45201400-45207200	Weak transcription	Aorta	Aorta
4	chr6:45201400-45207800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:45201400-45211800	Weak transcription	Fetal Heart	heart
6	chr6:45204000-45207200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:45204400-45207800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:45204600-45205200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:45204600-45205200	Active TSS	Liver	Liver
10	chr6:45204800-45207200	Weak transcription	Dnd41	blood

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