Variant report

Variant	rs72801086
Chromosome Location	chr5:142761039-142761040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:142761002..142763561-chr5:142778835..142781443,2	K562	blood:

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10076665	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10482605	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10482633	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10482642	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10482689	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10482700	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10515521	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11740747	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11740792	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1438731	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17287758	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17339831	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4128428	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6198	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72801052	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72801070	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72801079	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801081	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801083	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801088	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][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	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv969982	chr5:142757204-142762618	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142725000-142764200	Weak transcription	Lung	lung
2	chr5:142739400-142763600	Weak transcription	Thymus	Thymus
3	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr5:142742600-142762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:142743200-142764200	Weak transcription	HepG2	liver
6	chr5:142744000-142762200	Weak transcription	K562	blood
7	chr5:142744600-142762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:142745400-142764200	Weak transcription	Fetal Stomach	stomach
9	chr5:142747800-142762000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:142747800-142762200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:142748800-142761400	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:142748800-142762200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:142749200-142761200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:142750400-142764200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr5:142751200-142764600	Weak transcription	Gastric	stomach
16	chr5:142752400-142764600	Weak transcription	Brain Angular Gyrus	brain
17	chr5:142752800-142762000	Weak transcription	Fetal Lung	lung
18	chr5:142752800-142763600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:142753200-142763000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:142753600-142763600	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:142754400-142762800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:142754600-142762000	Weak transcription	Primary B cells from cord blood	blood
23	chr5:142754800-142761200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:142754800-142762000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:142754800-142764000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:142755000-142761400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:142755400-142763400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr5:142756200-142762000	Weak transcription	Liver	Liver
29	chr5:142756600-142766400	Weak transcription	Pancreas	Pancrea
30	chr5:142756800-142763200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:142757000-142762400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:142757000-142763800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:142757000-142763800	Weak transcription	Right Atrium	heart
34	chr5:142757000-142764200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:142757000-142764200	Weak transcription	Ovary	ovary
36	chr5:142757200-142762000	Weak transcription	Fetal Thymus	thymus
37	chr5:142757200-142763000	Weak transcription	HSMMtube	muscle
38	chr5:142757200-142763600	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:142757200-142764200	Weak transcription	Aorta	Aorta
40	chr5:142757200-142764200	Weak transcription	Spleen	Spleen
41	chr5:142757400-142761800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:142757400-142762000	Weak transcription	Left Ventricle	heart
43	chr5:142757400-142762200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:142757400-142762200	Weak transcription	Fetal Heart	heart
45	chr5:142757400-142762400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:142757400-142762400	Weak transcription	HSMM	muscle
47	chr5:142757400-142762600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr5:142757400-142763600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:142757400-142764200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:142757400-142764200	Weak transcription	Placenta	Placenta

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