Variant report

Variant	rs72790418
Chromosome Location	chr5:126766278-126766279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126764500..126767377-chr5:126777368..126779276,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11950427	0.84[EUR][1000 genomes]
rs17444885	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604615	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604665	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604777	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604819	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604882	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604889	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604946	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17673474	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673517	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17673685	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17673995	0.95[EUR][1000 genomes]
rs17839690	0.83[EUR][1000 genomes]
rs2068168	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408871	0.84[EUR][1000 genomes]
rs3812053	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812054	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298308	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298312	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57256097	0.93[EUR][1000 genomes]
rs6595768	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874752	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6882034	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6892742	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72788576	0.86[ASN][1000 genomes]
rs72788578	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72788581	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788599	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790405	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790408	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790410	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790411	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790412	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790417	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790419	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790422	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790424	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790426	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790428	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790430	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790433	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790438	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790443	0.81[EUR][1000 genomes]
rs72790444	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790451	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790460	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790468	0.96[EUR][1000 genomes]
rs72790470	0.96[EUR][1000 genomes]
rs72790475	0.96[EUR][1000 genomes]
rs72790483	0.95[EUR][1000 genomes]
rs72790485	0.95[EUR][1000 genomes]
rs72790487	0.89[EUR][1000 genomes]
rs73786108	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718640	0.95[EUR][1000 genomes]
rs7730171	0.92[EUR][1000 genomes]
rs7731380	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:126755400-126774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:126756000-126768000	Weak transcription	Fetal Brain Male	brain
6	chr5:126756000-126770400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:126759200-126774000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr5:126761000-126774800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:126761600-126774000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:126761800-126776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:126761800-126779600	Weak transcription	Right Atrium	heart
14	chr5:126762800-126769200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:126762800-126778400	Weak transcription	Pancreas	Pancrea
16	chr5:126763000-126770000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:126763200-126770600	Enhancers	Brain Substantia Nigra	brain
18	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:126764000-126767000	Enhancers	Stomach Mucosa	stomach
20	chr5:126764200-126766400	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:126764200-126768400	Weak transcription	Fetal Heart	heart
22	chr5:126764600-126766600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:126764600-126770400	Weak transcription	HSMMtube	muscle
24	chr5:126764800-126767800	Weak transcription	Brain Germinal Matrix	brain
25	chr5:126765000-126768200	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:126765200-126767600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:126765200-126769000	Weak transcription	Fetal Brain Female	brain
28	chr5:126765800-126767000	Weak transcription	Brain Anterior Caudate	brain
29	chr5:126765800-126782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:126766000-126767600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:126766000-126770200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:126766000-126770400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:126766200-126767200	Weak transcription	Brain Hippocampus Middle	brain
34	chr5:126766200-126767200	Weak transcription	Fetal Muscle Leg	muscle
35	chr5:126766200-126767400	Weak transcription	Brain Angular Gyrus	brain
36	chr5:126766200-126770400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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