Variant report

Variant	rs72786350
Chromosome Location	chr5:90592422-90592423
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90590416..90593058-chr5:90599643..90601505,2	K562	blood:
2	chr5:90586245..90589226-chr5:90591363..90594603,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10474341	0.86[ASN][1000 genomes]
rs12188638	0.86[ASN][1000 genomes]
rs12514996	1.00[AFR][1000 genomes]
rs12515116	0.81[ASN][1000 genomes]
rs12520306	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12521670	1.00[AFR][1000 genomes]
rs12653995	0.91[ASN][1000 genomes]
rs12658394	0.89[EUR][1000 genomes]
rs12658748	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16869618	0.86[ASN][1000 genomes]
rs2175437	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28369128	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34107416	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56316727	0.95[ASN][1000 genomes]
rs56377435	0.95[ASN][1000 genomes]
rs56876862	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57859727	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58781250	0.95[ASN][1000 genomes]
rs61156097	1.00[AFR][1000 genomes]
rs67220802	0.93[EUR][1000 genomes]
rs67863612	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6888057	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72786311	0.86[ASN][1000 genomes]
rs72786312	0.81[ASN][1000 genomes]
rs72786318	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72786321	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72786324	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72786325	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72786326	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72786329	0.91[ASN][1000 genomes]
rs72786331	0.95[ASN][1000 genomes]
rs72786332	0.95[ASN][1000 genomes]
rs72786338	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72786358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72786359	0.90[EUR][1000 genomes]
rs72786360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9647558	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90589200-90592600	Weak transcription	Left Ventricle	heart
2	chr5:90589400-90593800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:90589600-90593800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:90589800-90607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:90590200-90592600	Weak transcription	Fetal Thymus	thymus
6	chr5:90591000-90593800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:90591600-90593000	Enhancers	Placenta	Placenta
8	chr5:90591800-90593000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:90591800-90593000	Enhancers	Adipose Nuclei	Adipose
10	chr5:90591800-90593400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:90591800-90593400	Flanking Active TSS	Hela-S3	cervix
12	chr5:90591800-90594400	Enhancers	NHDF-Ad	bronchial
13	chr5:90592000-90592800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:90592000-90593000	Enhancers	Right Atrium	heart
15	chr5:90592000-90594000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr5:90592200-90592800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:90592200-90592800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr5:90592200-90593000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:90592200-90593000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:90592200-90593400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:90592200-90593400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:90592400-90592800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:90592400-90592800	Enhancers	Aorta	Aorta
24	chr5:90592400-90592800	Enhancers	Fetal Muscle Leg	muscle
25	chr5:90592400-90592800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:90592400-90593000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:90592400-90593000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:90592400-90593000	Enhancers	Brain Anterior Caudate	brain
29	chr5:90592400-90593000	Enhancers	Brain Germinal Matrix	brain
30	chr5:90592400-90593000	Enhancers	Fetal Heart	heart
31	chr5:90592400-90593000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr5:90592400-90593000	Enhancers	HSMM	muscle
33	chr5:90592400-90593000	Enhancers	HSMMtube	muscle
34	chr5:90592400-90593000	Enhancers	NH-A	brain
35	chr5:90592400-90593000	Enhancers	NHEK	skin
36	chr5:90592400-90593000	Flanking Active TSS	Osteobl	bone
37	chr5:90592400-90593200	Enhancers	A549	lung
38	chr5:90592400-90593200	Enhancers	HMEC	breast
39	chr5:90592400-90593400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:90592400-90593400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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