Variant report

Variant	rs72790433
Chromosome Location	chr5:126780062-126780063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:126779936-126780196	Hela-S3	cervix:	n/a	chr5:126779986-126779998
2	CEBPB	chr5:126779904-126780195	HepG2	liver:	n/a	chr5:126779986-126779998
3	JUND	chr5:126780011-126780137	HepG2	liver:	n/a	n/a
4	JUN	chr5:126780043-126780109	HepG2	liver:	n/a	n/a
5	STAT3	chr5:126780036-126780236	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
MEGF10	TF binding region

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	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604889	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604946	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17673474	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673517	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17673685	0.96[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	0.96[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	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298312	0.93[AFR][1000 genomes];1.00[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	0.89[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	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790408	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790410	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790411	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790412	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790417	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790418	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790430	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790443	0.81[EUR][1000 genomes]
rs72790444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790451	1.00[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:30 , 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	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:126765800-126782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:126768200-126782000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:126776000-126783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:126776400-126780800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:126776400-126785200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:126776600-126782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:126776600-126784600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:126777000-126782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:126777000-126783200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr5:126777600-126783200	Weak transcription	NH-A	brain
17	chr5:126777800-126781000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr5:126778000-126783200	Weak transcription	HSMM	muscle
19	chr5:126778000-126790800	Strong transcription	Fetal Muscle Leg	muscle
20	chr5:126778000-126795400	Weak transcription	Brain Angular Gyrus	brain
21	chr5:126778800-126783200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:126779000-126780800	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:126779000-126781200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:126779000-126782000	Weak transcription	Brain Anterior Caudate	brain
25	chr5:126779000-126783200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:126779400-126781000	Weak transcription	Brain Substantia Nigra	brain
27	chr5:126779400-126783200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:126779600-126781000	Weak transcription	HSMMtube	muscle
29	chr5:126779600-126782200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:126779600-126782400	Weak transcription	Fetal Muscle Trunk	muscle

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