Variant report

Variant	rs72797254
Chromosome Location	chr5:152012507-152012508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10155517	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10515675	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10515676	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11167584	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11956651	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12188564	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13359939	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13361438	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17452991	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17453481	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17453530	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17453740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17453775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17453880	0.81[AMR][1000 genomes]
rs17454420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17455800	0.85[EUR][1000 genomes]
rs17549307	1.00[AFR][1000 genomes]
rs17549488	1.00[AFR][1000 genomes]
rs17550343	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17565365	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17565470	0.85[EUR][1000 genomes]
rs17565505	0.83[EUR][1000 genomes]
rs2961756	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2961760	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2961765	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2961766	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2964230	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2964231	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3923209	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4246030	1.00[AFR][1000 genomes]
rs4246033	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4342320	0.87[AFR][1000 genomes]
rs4398624	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4406125	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4478308	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4484412	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4557395	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4580766	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4958316	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4958317	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4958320	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4958323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4958551	1.00[AFR][1000 genomes]
rs4958554	1.00[AFR][1000 genomes]
rs4958555	1.00[AFR][1000 genomes]
rs4958560	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4958561	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4958562	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4958564	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4958566	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4958567	0.97[EUR][1000 genomes]
rs4958568	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4958569	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55648729	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55696164	1.00[AFR][1000 genomes]
rs55786399	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56014830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56050684	1.00[AFR][1000 genomes]
rs57358310	0.81[AMR][1000 genomes]
rs67979431	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6871699	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6871986	0.81[AMR][1000 genomes]
rs6876403	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6876723	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6884556	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6895969	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72795336	1.00[AFR][1000 genomes]
rs72795340	1.00[AFR][1000 genomes]
rs72795344	1.00[AFR][1000 genomes]
rs72795349	0.87[AFR][1000 genomes]
rs72795350	0.87[AFR][1000 genomes]
rs72795351	0.87[AFR][1000 genomes]
rs72795352	0.87[AFR][1000 genomes]
rs72795364	1.00[AFR][1000 genomes]
rs72795366	1.00[AFR][1000 genomes]
rs72795376	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72795379	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72795389	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72797226	0.95[ASN][1000 genomes]
rs72797233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72797237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72797241	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72797243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72797251	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72797262	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72797296	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72799113	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9324734	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv5074	chr5:152010691-152055779	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152002600-152013600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:152002600-152014000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:152004200-152014200	Weak transcription	Spleen	Spleen
4	chr5:152005600-152013800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:152005800-152012800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:152006400-152014400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:152008400-152013400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:152008400-152022800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:152009000-152016800	Enhancers	Fetal Brain Female	brain
10	chr5:152010400-152013600	Enhancers	Fetal Lung	lung
11	chr5:152011200-152012800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:152011400-152012600	Enhancers	Fetal Kidney	kidney
13	chr5:152011600-152012800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:152011800-152021800	Weak transcription	Aorta	Aorta
15	chr5:152012000-152012800	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr5:152012000-152012800	Enhancers	Right Ventricle	heart
17	chr5:152012000-152013400	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:152012200-152012800	Enhancers	Left Ventricle	heart
19	chr5:152012200-152012800	Enhancers	Right Atrium	heart
20	chr5:152012200-152014600	Enhancers	Adipose Nuclei	Adipose
21	chr5:152012200-152014800	Enhancers	Fetal Brain Male	brain
22	chr5:152012400-152012800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr5:152012400-152013600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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