Variant report

Variant	rs41298308
Chromosome Location	chr5:126776623-126776624
allele	G/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	ZNF263	chr5:126776244-126777051	HEK293-T-REx	kidney:	n/a	chr5:126776945-126776954 chr5:126776404-126776425 chr5:126776418-126776427

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:126775465..126778427-chr5:126779477..126781468,2	K562	blood:

Variant related genes	Relation type
MEGF10	TF binding region
ENSG00000145794	Chromatin interaction

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]
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	0.80[AFR][1000 genomes];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]
rs72790418	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790419	0.91[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	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790426	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72790428	1.00[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:42 , 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	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:126761800-126779600	Weak transcription	Right Atrium	heart
7	chr5:126762800-126778400	Weak transcription	Pancreas	Pancrea
8	chr5:126763400-126794000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:126765800-126782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:126768200-126782000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:126772600-126776800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr5:126774800-126777400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:126774800-126778800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:126775200-126777800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:126776000-126777200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:126776000-126783200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:126776200-126777000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr5:126776200-126777200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:126776200-126777200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:126776200-126777200	Weak transcription	Brain Hippocampus Middle	brain
22	chr5:126776200-126777200	Genic enhancers	HSMMtube	muscle
23	chr5:126776200-126777400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr5:126776200-126777600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:126776200-126777800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr5:126776200-126778000	Enhancers	HSMM	muscle
27	chr5:126776400-126777000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:126776400-126777000	Enhancers	NHDF-Ad	bronchial
29	chr5:126776400-126777400	Enhancers	Osteobl	bone
30	chr5:126776400-126777800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:126776400-126780800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:126776400-126785200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:126776600-126776800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:126776600-126776800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:126776600-126776800	Bivalent Enhancer	Placenta	Placenta
36	chr5:126776600-126776800	Enhancers	NH-A	brain
37	chr5:126776600-126777000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:126776600-126777400	Weak transcription	Brain Angular Gyrus	brain
39	chr5:126776600-126777600	Genic enhancers	Fetal Muscle Leg	muscle
40	chr5:126776600-126779200	Genic enhancers	Brain Substantia Nigra	brain
41	chr5:126776600-126782600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:126776600-126784600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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