Variant report

Variant	rs9292193
Chromosome Location	chr5:58451621-58451622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10472093	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13176291	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13176475	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13361218	0.82[EUR][1000 genomes]
rs1559251	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6450506	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6875867	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs716908	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922434	0.82[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	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv881702	chr5:58432413-58474854	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:58437400-58454000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
4	chr5:58447000-58453400	Enhancers	Primary T cells from cord blood	blood
5	chr5:58447600-58454800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:58447600-58464000	Weak transcription	Right Ventricle	heart
7	chr5:58447600-58465200	Weak transcription	Right Atrium	heart
8	chr5:58447600-58473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr5:58447600-58473400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:58447600-58479600	Weak transcription	Left Ventricle	heart
11	chr5:58447800-58453000	Weak transcription	Fetal Heart	heart
12	chr5:58448600-58453400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:58449000-58453800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:58449000-58453800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:58449000-58456400	Weak transcription	Fetal Intestine Large	intestine
16	chr5:58449200-58452200	Weak transcription	HSMM	muscle
17	chr5:58449200-58453000	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:58449200-58453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:58449200-58453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:58449200-58454200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:58449200-58457000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr5:58449200-58457600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:58449400-58473600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:58449600-58453800	Weak transcription	Psoas Muscle	Psoas
25	chr5:58449600-58457000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:58449800-58453800	Weak transcription	Small Intestine	intestine
27	chr5:58449800-58454000	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr5:58449800-58456400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:58449800-58489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:58450000-58460200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:58451200-58452000	Enhancers	Fetal Thymus	thymus
32	chr5:58451200-58452200	Strong transcription	Hela-S3	cervix
33	chr5:58451400-58459600	Weak transcription	Fetal Lung	lung
34	chr5:58451600-58451800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr5:58451600-58452000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:58451600-58452000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr5:58451600-58452000	Active TSS	Fetal Muscle Trunk	muscle
38	chr5:58451600-58452000	Genic enhancers	A549	lung
39	chr5:58451600-58455200	Enhancers	Fetal Muscle Leg	muscle

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