Variant report

Variant	rs72801079
Chromosome Location	chr5:142751824-142751825
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	chr5:142750047..142752469-chr5:142777279..142779161,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10076665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10482605	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10482633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10482642	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10482689	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10482700	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10515521	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11740747	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11740792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1438731	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17287758	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17339831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4128428	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6198	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72801052	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72801070	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72801081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72801086	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72801088	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142725000-142764200	Weak transcription	Lung	lung
2	chr5:142734000-142756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:142734200-142754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:142735600-142756000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:142736200-142755800	Weak transcription	Small Intestine	intestine
6	chr5:142736200-142756000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr5:142739400-142763600	Weak transcription	Thymus	Thymus
8	chr5:142739600-142754200	Weak transcription	Fetal Thymus	thymus
9	chr5:142740600-142752600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:142740600-142755800	Weak transcription	Right Ventricle	heart
11	chr5:142740800-142752600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:142741400-142757000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr5:142741600-142771600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr5:142742000-142753600	Weak transcription	Osteobl	bone
15	chr5:142742600-142756200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:142742600-142762400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr5:142742800-142755800	Weak transcription	Right Atrium	heart
18	chr5:142742800-142758800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:142743000-142756800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:142743200-142764200	Weak transcription	HepG2	liver
21	chr5:142744000-142754000	Weak transcription	NHLF	lung
22	chr5:142744000-142762200	Weak transcription	K562	blood
23	chr5:142744200-142755800	Weak transcription	HSMM	muscle
24	chr5:142744200-142756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:142744600-142762400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:142745000-142752400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:142745400-142755800	Weak transcription	Primary T cells from cord blood	blood
28	chr5:142745400-142764200	Weak transcription	Fetal Stomach	stomach
29	chr5:142745800-142756000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:142745800-142756000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:142746200-142752600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:142746200-142754200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:142746200-142756000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:142746200-142760000	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr5:142746600-142752400	Strong transcription	Dnd41	blood
36	chr5:142747000-142755800	Weak transcription	Aorta	Aorta
37	chr5:142747400-142754200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:142747800-142762000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr5:142747800-142762200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:142748000-142754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr5:142748200-142754600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:142748600-142755800	Weak transcription	Spleen	Spleen
43	chr5:142748600-142756800	Weak transcription	Esophagus	oesophagus
44	chr5:142748600-142756800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:142748800-142754200	Weak transcription	Left Ventricle	heart
46	chr5:142748800-142756400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr5:142748800-142761400	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:142748800-142762200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:142749000-142754000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr5:142749000-142754000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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