Variant report

Variant	rs72790451
Chromosome Location	chr5:126793635-126793636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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];1.00[ASN][1000 genomes]
rs17604615	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604665	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604777	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604819	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604882	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17604889	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604946	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17673474	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17673517	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17673685	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673995	0.95[EUR][1000 genomes]
rs17839690	0.83[EUR][1000 genomes]
rs2068168	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408871	0.84[EUR][1000 genomes]
rs3812053	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812054	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41298308	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41298312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57256097	0.93[EUR][1000 genomes]
rs6595768	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874752	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6882034	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6892742	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72788576	0.83[ASN][1000 genomes]
rs72788578	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72788581	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72788599	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790405	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790408	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790410	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790411	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790412	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790417	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790418	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790422	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790424	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790426	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790428	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790443	0.81[EUR][1000 genomes]
rs72790444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790460	0.98[EUR][1000 genomes];0.97[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];0.97[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126778000-126795400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:126781800-126794800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:126782600-126795200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126783200-126794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:126783400-126795600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:126783800-126797200	Weak transcription	HSMM	muscle
9	chr5:126785200-126797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:126785400-126794800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:126786000-126797600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:126788800-126797800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:126789400-126797000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:126789800-126797000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:126790200-126797200	Weak transcription	Brain Hippocampus Middle	brain
17	chr5:126791400-126797200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:126792800-126795600	Strong transcription	HSMMtube	muscle
19	chr5:126793000-126793800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr5:126793200-126798000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:126793400-126796800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr5:126793400-126797000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:126793400-126797000	Weak transcription	Brain Anterior Caudate	brain
24	chr5:126793400-126797200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:126793400-126799600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:126793400-126805200	Weak transcription	Fetal Muscle Leg	muscle

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