Variant report

Variant	rs58511292
Chromosome Location	chr5:41762002-41762003
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41755998..41758504-chr5:41761054..41764020,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12109484	1.00[AMR][1000 genomes]
rs55957622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56347183	0.81[AMR][1000 genomes]
rs57519513	0.84[AFR][1000 genomes]
rs57536348	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57555512	0.81[AMR][1000 genomes]
rs58204687	0.84[AFR][1000 genomes]
rs58783539	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59074523	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59194359	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59365840	0.81[AMR][1000 genomes]
rs60432772	0.81[AMR][1000 genomes]
rs60491534	1.00[AMR][1000 genomes]
rs61303374	0.81[AMR][1000 genomes]
rs6873842	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6876042	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6897007	1.00[AMR][1000 genomes]
rs73076205	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73076279	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73078212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73082214	0.83[AFR][1000 genomes]
rs73087787	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73089508	0.81[AMR][1000 genomes]
rs73752207	0.81[AMR][1000 genomes]
rs73752214	0.81[AMR][1000 genomes]
rs7732111	0.87[AFR][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	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41728600-41763800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:41730200-41764000	Weak transcription	Spleen	Spleen
3	chr5:41731400-41800400	Weak transcription	Small Intestine	intestine
4	chr5:41735600-41763200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:41735600-41763400	Weak transcription	Fetal Brain Male	brain
6	chr5:41735800-41800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:41736200-41763400	Weak transcription	Psoas Muscle	Psoas
8	chr5:41736800-41763000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:41737800-41763400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:41739200-41763200	Weak transcription	Brain Substantia Nigra	brain
11	chr5:41739400-41770800	Weak transcription	Pancreas	Pancrea
12	chr5:41739400-41788800	Weak transcription	Gastric	stomach
13	chr5:41739400-41790200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:41739400-41799600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:41739600-41764000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:41739600-41764600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:41739600-41765200	Weak transcription	Lung	lung
18	chr5:41739600-41768000	Weak transcription	Right Ventricle	heart
19	chr5:41739600-41786400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:41739600-41794800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:41739800-41770400	Weak transcription	Fetal Stomach	stomach
22	chr5:41747000-41762800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr5:41747000-41784000	Weak transcription	K562	blood
24	chr5:41747400-41777600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:41747800-41762800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:41747800-41766400	Weak transcription	Brain Angular Gyrus	brain
27	chr5:41748200-41762200	Weak transcription	NHLF	lung
28	chr5:41748200-41762600	Weak transcription	NH-A	brain
29	chr5:41748200-41776000	Weak transcription	HUVEC	blood vessel
30	chr5:41748400-41762800	Weak transcription	Fetal Heart	heart
31	chr5:41748800-41763600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:41748800-41768000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:41749200-41762400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:41749200-41762800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:41749200-41763200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:41749200-41764600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:41749200-41786000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:41749200-41797800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr5:41751800-41762600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:41751800-41764600	Weak transcription	Fetal Brain Female	brain
41	chr5:41752000-41789400	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:41752400-41762600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:41752400-41762600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:41753800-41763400	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:41755000-41762800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:41755000-41763000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:41755000-41763200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr5:41755400-41764000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr5:41755800-41762800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:41756200-41762200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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