Variant report

Variant	rs72790412
Chromosome Location	chr5:126755339-126755340
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	chr5:126751710..126754052-chr5:126754566..126757264,2	K562	blood:
2	chr5:126753682..126756531-chr5:126759834..126762249,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11950427	0.83[EUR][1000 genomes]
rs17444885	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604615	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604665	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604777	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604819	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604882	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604889	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17604946	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17673474	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673517	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17673685	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17673995	0.94[EUR][1000 genomes]
rs17839690	0.82[EUR][1000 genomes]
rs2068168	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408871	0.83[EUR][1000 genomes]
rs3812053	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3812054	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298308	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298312	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57256097	0.92[EUR][1000 genomes]
rs6595768	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874752	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6882034	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6892742	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72788576	0.86[ASN][1000 genomes]
rs72788578	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72788581	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788599	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790405	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790408	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790410	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790411	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790417	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790418	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790419	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790422	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72790424	0.83[EUR][1000 genomes]
rs72790426	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72790428	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790430	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790433	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790438	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790444	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790451	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790460	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72790468	0.95[EUR][1000 genomes]
rs72790470	0.95[EUR][1000 genomes]
rs72790475	0.95[EUR][1000 genomes]
rs72790483	0.94[EUR][1000 genomes]
rs72790485	0.94[EUR][1000 genomes]
rs72790487	0.87[EUR][1000 genomes]
rs73786108	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7718640	0.94[EUR][1000 genomes]
rs7730171	0.91[EUR][1000 genomes]
rs7731380	0.95[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126760200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:126742800-126762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:126743000-126755600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:126743400-126760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:126746200-126758000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:126746400-126760800	Weak transcription	HSMM	muscle
10	chr5:126747000-126759200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:126748400-126758600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:126752200-126756200	Enhancers	Brain Hippocampus Middle	brain
13	chr5:126752200-126756200	Enhancers	Brain Substantia Nigra	brain
14	chr5:126752800-126755400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr5:126752800-126755800	Enhancers	Brain Angular Gyrus	brain
16	chr5:126753200-126757400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:126753400-126755600	Enhancers	Fetal Brain Female	brain
18	chr5:126753400-126761000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr5:126754200-126755400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:126754400-126755800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:126754600-126755400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:126754800-126755400	Enhancers	Fetal Lung	lung
23	chr5:126754800-126755400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr5:126754800-126755400	Enhancers	Fetal Stomach	stomach
25	chr5:126754800-126755800	Enhancers	Psoas Muscle	Psoas
26	chr5:126754800-126756000	Enhancers	Fetal Brain Male	brain
27	chr5:126754800-126756800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr5:126755000-126755400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:126755000-126755400	Enhancers	Liver	Liver
30	chr5:126755000-126756000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:126755000-126756000	Genic enhancers	Brain Anterior Caudate	brain
32	chr5:126755000-126756000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr5:126755000-126756600	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr5:126755000-126761800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:126755200-126756000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr5:126755200-126756400	Genic enhancers	Brain Cingulate Gyrus	brain
37	chr5:126755200-126757200	Strong transcription	HSMMtube	muscle

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