Variant report

Variant	rs62356692
Chromosome Location	chr5:58391914-58391915
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10065303	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10452450	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12109774	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16889167	0.93[EUR][1000 genomes]
rs17720871	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17721133	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17721311	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17721564	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17777280	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17777617	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55801062	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56407743	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356680	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62356683	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356684	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62356686	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356687	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62356690	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356691	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356694	0.85[EUR][1000 genomes]
rs6898082	0.83[EUR][1000 genomes]
rs950446	0.85[AMR][1000 genomes];0.80[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	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58387800-58394600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58388600-58394600	Weak transcription	Stomach Mucosa	stomach
3	chr5:58389000-58394600	Weak transcription	HSMM	muscle
4	chr5:58389200-58394600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:58389400-58392800	Weak transcription	NHLF	lung
6	chr5:58389400-58394200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:58389600-58392000	Weak transcription	Fetal Stomach	stomach
8	chr5:58389600-58393000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:58389600-58394000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:58389600-58394200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:58389600-58394600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:58389800-58394000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr5:58389800-58394200	Weak transcription	NHEK	skin
14	chr5:58389800-58394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:58389800-58395000	Weak transcription	HepG2	liver
16	chr5:58390200-58392000	Enhancers	Fetal Brain Male	brain
17	chr5:58390800-58392000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:58390800-58392000	Flanking Active TSS	A549	lung
19	chr5:58390800-58392200	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:58390800-58396200	Enhancers	Fetal Intestine Large	intestine
21	chr5:58391000-58395000	Weak transcription	Primary T cells from cord blood	blood
22	chr5:58391400-58392000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:58391600-58392000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:58391600-58392000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:58391600-58392000	Flanking Active TSS	Fetal Lung	lung
26	chr5:58391600-58392000	Active TSS	Stomach Smooth Muscle	stomach
27	chr5:58391600-58392800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:58391600-58393800	Enhancers	Colon Smooth Muscle	Colon
29	chr5:58391600-58394000	Enhancers	Hela-S3	cervix
30	chr5:58391800-58392000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr5:58391800-58392000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:58391800-58392000	Enhancers	Duodenum Mucosa	Duodenum
33	chr5:58391800-58392000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr5:58391800-58392000	Enhancers	Left Ventricle	heart
35	chr5:58391800-58392000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:58391800-58392400	Enhancers	Fetal Intestine Small	intestine
37	chr5:58391800-58392400	Enhancers	Psoas Muscle	Psoas
38	chr5:58391800-58392400	Enhancers	Small Intestine	intestine
39	chr5:58391800-58393000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:58391800-58393000	Weak transcription	Osteobl	bone
41	chr5:58391800-58398800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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