Variant report

Variant	rs72744564
Chromosome Location	chr5:36236862-36236863
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36236595..36238190-chr5:36257142..36259988,2	K562	blood:
2	chr5:36150468..36152660-chr5:36236514..36238077,2	K562	blood:

Variant related genes	Relation type
ENSG00000145604	Chromatin interaction
ENSG00000164187	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10454863	0.81[EUR][1000 genomes]
rs10512639	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10941277	0.82[ASN][1000 genomes]
rs10941278	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10941279	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10941281	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11737918	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11738615	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11739323	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11744207	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11745827	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11747546	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12522905	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13179201	0.81[EUR][1000 genomes]
rs1363840	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16902835	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2362977	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2362979	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2432204	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs249272	0.84[ASN][1000 genomes]
rs28610396	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35161198	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35647151	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3761973	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3789758	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3933496	0.86[ASN][1000 genomes]
rs67061065	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67399512	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6879127	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6881318	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6884331	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6890702	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72744549	0.90[ASN][1000 genomes]
rs72744565	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72744587	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7716788	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
2	nsv1015638	chr5:36203646-36312576	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36198000-36238400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr5:36200200-36239400	Weak transcription	Fetal Brain Male	brain
3	chr5:36201400-36240000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:36213200-36237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:36215800-36237800	Weak transcription	HMEC	breast
6	chr5:36221200-36238800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:36221600-36238600	Weak transcription	Fetal Stomach	stomach
8	chr5:36221600-36239800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:36225200-36237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:36225400-36237800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:36225400-36237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:36225600-36239800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:36225800-36237800	Weak transcription	Fetal Lung	lung
14	chr5:36226000-36237000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:36226000-36237200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr5:36226000-36239800	Weak transcription	Fetal Brain Female	brain
17	chr5:36226000-36240400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr5:36226000-36240400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr5:36226200-36237000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:36226400-36239200	Weak transcription	Brain Angular Gyrus	brain
21	chr5:36226600-36237000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:36226600-36237800	Weak transcription	Brain Anterior Caudate	brain
23	chr5:36226600-36237800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:36226600-36237800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:36226600-36237800	Weak transcription	Dnd41	blood
26	chr5:36226600-36238000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr5:36226600-36239200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:36226600-36239400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:36226600-36240000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:36226800-36237400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:36226800-36237800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:36226800-36237800	Weak transcription	Hela-S3	cervix
33	chr5:36226800-36238000	Weak transcription	Adipose Nuclei	Adipose
34	chr5:36226800-36238200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:36227000-36237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:36227000-36239200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:36228600-36237000	Weak transcription	NHEK	skin
38	chr5:36229000-36237800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:36230400-36237000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:36230400-36237800	Weak transcription	Aorta	Aorta
41	chr5:36230400-36237800	Weak transcription	Ovary	ovary
42	chr5:36230400-36237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:36230600-36237800	Weak transcription	Psoas Muscle	Psoas
44	chr5:36230600-36239000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:36230800-36237800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:36231200-36237000	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:36231200-36237600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr5:36231400-36237800	Weak transcription	Left Ventricle	heart
49	chr5:36231400-36237800	Weak transcription	Pancreas	Pancrea
50	chr5:36231400-36238600	Weak transcription	HSMMtube	muscle

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