Variant report

Variant	rs72773052
Chromosome Location	chr5:80885729-80885730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10514230	0.90[ASN][1000 genomes]
rs10942274	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10942275	0.87[ASN][1000 genomes]
rs11738820	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11743304	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11745832	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11749863	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12517941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12521077	0.84[ASN][1000 genomes]
rs12521151	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13157978	0.88[ASN][1000 genomes]
rs13158214	0.92[ASN][1000 genomes]
rs13170372	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13171787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13173845	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13184174	0.92[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs13436668	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1971177	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2060584	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34307657	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34365981	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34870295	0.81[ASN][1000 genomes]
rs35340025	0.91[EUR][1000 genomes]
rs35862056	0.92[ASN][1000 genomes]
rs62366251	0.85[EUR][1000 genomes]
rs62366269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62368677	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62368679	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6887473	0.81[ASN][1000 genomes]
rs71636282	0.87[ASN][1000 genomes]
rs7707981	0.92[ASN][1000 genomes]
rs7711576	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7720445	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7726379	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[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	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80864200-80886400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:80864200-80894200	Weak transcription	Fetal Lung	lung
3	chr5:80864600-80894200	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr5:80869400-80887600	Weak transcription	Fetal Stomach	stomach
5	chr5:80869800-80886400	Weak transcription	Thymus	Thymus
6	chr5:80870000-80887600	Weak transcription	Aorta	Aorta
7	chr5:80870600-80886600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:80870800-80894200	Weak transcription	Primary B cells from cord blood	blood
9	chr5:80875600-80886800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:80875600-80894000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:80875600-80894200	Weak transcription	GM12878-XiMat	blood
12	chr5:80876000-80894200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:80877200-80885800	Weak transcription	Dnd41	blood
14	chr5:80879000-80887600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:80881400-80886200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:80881400-80894200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:80882200-80886800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:80882800-80886200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:80882800-80888000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:80883200-80887600	Weak transcription	Brain Germinal Matrix	brain
21	chr5:80883200-80905800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:80883400-80886600	Weak transcription	Psoas Muscle	Psoas
23	chr5:80883400-80886600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:80883600-80886400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:80883800-80909200	Weak transcription	HSMM	muscle
26	chr5:80884600-80885800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:80884800-80886800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:80885000-80894200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:80885200-80905400	Weak transcription	Pancreas	Pancrea
30	chr5:80885400-80887000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:80885600-80885800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:80885600-80885800	Enhancers	Left Ventricle	heart
33	chr5:80885600-80886800	Enhancers	Primary T cells from cord blood	blood
34	chr5:80885600-80887000	Genic enhancers	Fetal Thymus	thymus
35	chr5:80885600-80887000	Enhancers	Right Atrium	heart

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