Variant report

Variant	rs60286676
Chromosome Location	chr5:58294973-58294974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1400224	0.91[ASN][1000 genomes]
rs2277013	1.00[AMR][1000 genomes]
rs3805555	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57338410	1.00[AMR][1000 genomes]
rs57454281	1.00[AMR][1000 genomes]
rs57718768	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57835046	1.00[ASN][1000 genomes]
rs58202935	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58830206	1.00[AMR][1000 genomes]
rs59840765	1.00[AMR][1000 genomes]
rs60527700	1.00[AMR][1000 genomes]
rs60741550	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60790143	1.00[AMR][1000 genomes]
rs60836618	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60900708	1.00[AMR][1000 genomes]
rs6883494	1.00[ASN][1000 genomes]
rs73093351	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv830312	chr5:58191579-58382226	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS 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
3	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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58270200-58297400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:58270800-58295800	Weak transcription	Small Intestine	intestine
3	chr5:58270800-58297000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:58277800-58295600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:58278400-58297400	Weak transcription	HSMMtube	muscle
6	chr5:58278400-58299000	Weak transcription	Gastric	stomach
7	chr5:58279200-58314000	Weak transcription	Primary B cells from cord blood	blood
8	chr5:58279400-58317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
10	chr5:58279800-58298200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:58280200-58297000	Weak transcription	Fetal Heart	heart
12	chr5:58280200-58297000	Weak transcription	Fetal Kidney	kidney
13	chr5:58280200-58297200	Weak transcription	Psoas Muscle	Psoas
14	chr5:58280200-58299400	Weak transcription	Right Ventricle	heart
15	chr5:58280400-58297600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr5:58281800-58321600	Weak transcription	Osteobl	bone
17	chr5:58282400-58306600	Weak transcription	Fetal Intestine Small	intestine
18	chr5:58284000-58296200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:58284400-58297600	Weak transcription	Fetal Lung	lung
20	chr5:58284400-58299200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:58286200-58297000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:58286200-58298400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:58286200-58312800	Weak transcription	Lung	lung
24	chr5:58286200-58316200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:58286200-58330400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:58286200-58330600	Weak transcription	Thymus	Thymus
27	chr5:58286400-58295800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr5:58286600-58297400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr5:58286600-58298200	Weak transcription	Left Ventricle	heart
30	chr5:58286800-58295600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:58286800-58295600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:58286800-58312200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:58286800-58312600	Weak transcription	Fetal Thymus	thymus
34	chr5:58286800-58312800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:58287000-58298200	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:58287200-58297400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:58287200-58298400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:58287400-58301600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:58287600-58297000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr5:58288600-58295600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:58288800-58297400	Weak transcription	Hela-S3	cervix
42	chr5:58288800-58297600	Weak transcription	HSMM	muscle
43	chr5:58288800-58330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:58289400-58301800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:58289600-58301600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:58290200-58295600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr5:58290200-58299000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:58290600-58297000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr5:58291200-58295000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr5:58291200-58297400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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