Variant report

Variant	rs2409628
Chromosome Location	chr5:58450662-58450663
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10055095	0.92[ASN][1000 genomes]
rs10062340	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10062397	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1038080	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1551939	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16877156	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35728243	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4700321	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6450507	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7707392	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7707566	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7730574	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs922435	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs922437	0.91[ASN][1000 genomes]
rs997421	0.83[AMR][1000 genomes];0.84[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:58433000-58451600	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:58437400-58454000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
5	chr5:58447000-58453400	Enhancers	Primary T cells from cord blood	blood
6	chr5:58447400-58451200	Weak transcription	Hela-S3	cervix
7	chr5:58447600-58454800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:58447600-58464000	Weak transcription	Right Ventricle	heart
9	chr5:58447600-58465200	Weak transcription	Right Atrium	heart
10	chr5:58447600-58473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:58447600-58473400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:58447600-58479600	Weak transcription	Left Ventricle	heart
13	chr5:58447800-58453000	Weak transcription	Fetal Heart	heart
14	chr5:58448600-58453400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:58449000-58453800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:58449000-58453800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:58449000-58456400	Weak transcription	Fetal Intestine Large	intestine
18	chr5:58449200-58452200	Weak transcription	HSMM	muscle
19	chr5:58449200-58453000	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:58449200-58453400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:58449200-58453800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:58449200-58454200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:58449200-58457000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:58449200-58457600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:58449400-58473600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr5:58449600-58453800	Weak transcription	Psoas Muscle	Psoas
27	chr5:58449600-58457000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:58449800-58450800	Weak transcription	A549	lung
29	chr5:58449800-58451600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:58449800-58453800	Weak transcription	Small Intestine	intestine
31	chr5:58449800-58454000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr5:58449800-58456400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:58449800-58489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:58450000-58451200	Weak transcription	Fetal Thymus	thymus
35	chr5:58450000-58460200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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