Variant report

Variant	rs57465219
Chromosome Location	chr5:59009669-59009670
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	chr5:59002219..59005898-chr5:59006477..59009673,3	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10036621	1.00[EUR][1000 genomes]
rs10037195	1.00[EUR][1000 genomes]
rs10070270	1.00[EUR][1000 genomes]
rs10076058	1.00[EUR][1000 genomes]
rs10078146	1.00[EUR][1000 genomes]
rs10214307	1.00[EUR][1000 genomes]
rs10472115	1.00[EUR][1000 genomes]
rs10514882	1.00[EUR][1000 genomes]
rs16890137	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16890246	1.00[EUR][1000 genomes]
rs16890279	1.00[EUR][1000 genomes]
rs16890284	1.00[EUR][1000 genomes]
rs16890314	1.00[EUR][1000 genomes]
rs2016004	1.00[EUR][1000 genomes]
rs3797208	1.00[EUR][1000 genomes]
rs4602573	1.00[EUR][1000 genomes]
rs55641022	1.00[EUR][1000 genomes]
rs55720412	1.00[EUR][1000 genomes]
rs55930874	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56203004	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56763295	0.90[AMR][1000 genomes]
rs57153097	1.00[EUR][1000 genomes]
rs57402847	1.00[EUR][1000 genomes]
rs57413746	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57434558	1.00[EUR][1000 genomes]
rs57438370	1.00[EUR][1000 genomes]
rs57742530	1.00[EUR][1000 genomes]
rs58746465	1.00[EUR][1000 genomes]
rs58815573	1.00[EUR][1000 genomes]
rs59025824	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60774517	1.00[EUR][1000 genomes]
rs61146095	1.00[EUR][1000 genomes]
rs6450533	1.00[EUR][1000 genomes]
rs6450534	1.00[EUR][1000 genomes]
rs6861008	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861209	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6862255	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6866277	1.00[EUR][1000 genomes]
rs6867150	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6869978	1.00[EUR][1000 genomes]
rs6873715	1.00[EUR][1000 genomes]
rs6873774	1.00[EUR][1000 genomes]
rs6874354	1.00[EUR][1000 genomes]
rs6874831	1.00[EUR][1000 genomes]
rs6876534	1.00[EUR][1000 genomes]
rs6878243	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6882607	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6885868	1.00[EUR][1000 genomes]
rs6888341	1.00[EUR][1000 genomes]
rs6889471	1.00[EUR][1000 genomes]
rs6891000	1.00[EUR][1000 genomes]
rs6893381	1.00[EUR][1000 genomes]
rs6895425	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6896644	1.00[EUR][1000 genomes]
rs6896871	1.00[EUR][1000 genomes]
rs73092839	1.00[EUR][1000 genomes]
rs73092846	1.00[EUR][1000 genomes]
rs73758838	1.00[EUR][1000 genomes]
rs73758839	1.00[EUR][1000 genomes]
rs73758847	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758848	0.81[AMR][1000 genomes]
rs73758850	1.00[EUR][1000 genomes]
rs73758851	1.00[EUR][1000 genomes]
rs73758856	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758857	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758858	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758859	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758860	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758862	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758864	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758867	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73758868	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73761012	1.00[EUR][1000 genomes]
rs7703935	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7705119	1.00[EUR][1000 genomes]
rs7705820	1.00[EUR][1000 genomes]
rs7707756	1.00[EUR][1000 genomes]
rs7707855	1.00[EUR][1000 genomes]
rs7708246	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709094	1.00[EUR][1000 genomes]
rs7709292	1.00[EUR][1000 genomes]
rs7710349	1.00[EUR][1000 genomes]
rs7711022	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7713509	1.00[EUR][1000 genomes]
rs7713964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7716837	1.00[EUR][1000 genomes]
rs7723356	1.00[EUR][1000 genomes]
rs7727677	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728346	1.00[EUR][1000 genomes]
rs7729112	1.00[EUR][1000 genomes]
rs7729853	1.00[EUR][1000 genomes]
rs7734202	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7737029	1.00[EUR][1000 genomes]
rs7737211	1.00[EUR][1000 genomes]
rs9292215	1.00[EUR][1000 genomes]
rs9292216	1.00[EUR][1000 genomes]
rs9292217	1.00[EUR][1000 genomes]
rs9765834	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031631	chr5:58783629-59015470	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881708	chr5:58869051-59093198	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv427720	chr5:58913581-59086987	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv462190	chr5:58936943-59023870	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv598258	chr5:58936943-59023870	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1034283	chr5:58940594-59040762	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv537767	chr5:58940594-59040762	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv534614	chr5:58962510-59388525	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
11	nsv462191	chr5:58993297-59038610	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv598259	chr5:58993297-59038610	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59006000-59012600	Weak transcription	Right Ventricle	heart
2	chr5:59006200-59011400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr5:59008400-59010000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr5:59008400-59010200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:59008600-59010000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr5:59008600-59010400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:59008600-59012800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr5:59008800-59009800	Enhancers	Colon Smooth Muscle	Colon
9	chr5:59008800-59010400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr5:59008800-59011400	ZNF genes & repeats	A549	lung
11	chr5:59009000-59009800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:59009000-59009800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr5:59009000-59009800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:59009000-59009800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr5:59009000-59009800	ZNF genes & repeats	Fetal Lung	lung
16	chr5:59009000-59009800	ZNF genes & repeats	Gastric	stomach
17	chr5:59009000-59010000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:59009000-59010800	ZNF genes & repeats	Hela-S3	cervix
19	chr5:59009200-59009800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr5:59009200-59009800	ZNF genes & repeats	Thymus	Thymus
21	chr5:59009200-59010000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:59009200-59010200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr5:59009200-59010400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
24	chr5:59009200-59010600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:59009200-59011000	ZNF genes & repeats	Fetal Stomach	stomach
26	chr5:59009400-59009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr5:59009400-59018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:59009600-59010400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:59009600-59019800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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