Variant report

Variant	rs6890598
Chromosome Location	chr5:58394760-58394761
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10037978	0.89[YRI][hapmap]
rs10043404	1.00[ASW][hapmap]
rs10058672	0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10070138	0.81[YRI][hapmap]
rs13358675	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13359707	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13361668	0.84[YRI][hapmap]
rs13362242	0.89[YRI][hapmap]
rs16889181	0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16889190	0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28703107	0.87[AMR][1000 genomes]
rs28735903	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56356290	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs56658018	0.87[AMR][1000 genomes]
rs58178219	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59490646	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6872107	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093324	0.87[AMR][1000 genomes]
rs7712076	1.00[ASW][hapmap];0.84[YRI][hapmap]
rs7719347	0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9292190	0.84[YRI][hapmap]

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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58389800-58394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:58389800-58395000	Weak transcription	HepG2	liver
3	chr5:58390800-58396200	Enhancers	Fetal Intestine Large	intestine
4	chr5:58391000-58395000	Weak transcription	Primary T cells from cord blood	blood
5	chr5:58391800-58398800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:58392000-58395000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:58392000-58398400	Weak transcription	Left Ventricle	heart
8	chr5:58392000-58400400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:58392000-58400600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:58392400-58395400	Weak transcription	Psoas Muscle	Psoas
11	chr5:58392400-58399200	Weak transcription	Small Intestine	intestine
12	chr5:58392400-58400400	Weak transcription	Fetal Stomach	stomach
13	chr5:58392800-58396400	Enhancers	Fetal Intestine Small	intestine
14	chr5:58393400-58394800	Weak transcription	NH-A	brain
15	chr5:58393400-58398400	Weak transcription	Fetal Heart	heart
16	chr5:58393600-58394800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:58393600-58394800	Enhancers	A549	lung
18	chr5:58393600-58395200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:58393600-58398400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:58393800-58395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:58393800-58398600	Weak transcription	Colon Smooth Muscle	Colon
22	chr5:58393800-58398600	Weak transcription	Fetal Lung	lung
23	chr5:58393800-58399200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:58394000-58394800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:58394000-58395600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr5:58394000-58396400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr5:58394200-58395800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:58394200-58395800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:58394200-58395800	Enhancers	NHEK	skin
30	chr5:58394200-58397000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr5:58394200-58397200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:58394400-58395400	Enhancers	NHLF	lung
33	chr5:58394400-58396000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:58394400-58396000	Enhancers	Osteobl	bone
35	chr5:58394400-58397000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:58394400-58397400	Enhancers	Hela-S3	cervix
37	chr5:58394600-58394800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr5:58394600-58395000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:58394600-58395400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:58394600-58395400	Enhancers	Gastric	stomach
41	chr5:58394600-58395600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr5:58394600-58395800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr5:58394600-58395800	Enhancers	HMEC	breast
44	chr5:58394600-58395800	Enhancers	HSMM	muscle
45	chr5:58394600-58396200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr5:58394600-58396200	Enhancers	Stomach Mucosa	stomach
47	chr5:58394600-58396600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:58394600-58396800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr5:58394600-58397600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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