Variant report

Variant	rs60836618
Chromosome Location	chr5:58307271-58307272
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13360359	0.83[ASN][1000 genomes]
rs1400224	0.81[ASN][1000 genomes]
rs2277013	1.00[AMR][1000 genomes]
rs3805555	1.00[AMR][1000 genomes]
rs56658018	0.81[ASN][1000 genomes]
rs57338410	1.00[AMR][1000 genomes]
rs57454281	1.00[AMR][1000 genomes]
rs57718768	1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57835046	0.89[ASN][1000 genomes]
rs58202935	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs58830206	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs59840765	1.00[AMR][1000 genomes]
rs60286676	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs60527700	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60741550	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60790143	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60900708	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs61288498	0.83[ASN][1000 genomes]
rs6869400	0.81[ASN][1000 genomes]
rs6883494	0.89[ASN][1000 genomes]
rs73093337	0.81[ASN][1000 genomes]
rs73093348	0.81[ASN][1000 genomes]
rs73093351	1.00[AMR][1000 genomes];0.81[ASN][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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58279200-58314000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:58279400-58317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:58279600-58330400	Weak transcription	Fetal Stomach	stomach
4	chr5:58281800-58321600	Weak transcription	Osteobl	bone
5	chr5:58286200-58312800	Weak transcription	Lung	lung
6	chr5:58286200-58316200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:58286200-58330400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:58286200-58330600	Weak transcription	Thymus	Thymus
9	chr5:58286800-58312200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:58286800-58312600	Weak transcription	Fetal Thymus	thymus
11	chr5:58286800-58312800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:58288800-58330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:58296000-58312400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:58296000-58321600	Weak transcription	Aorta	Aorta
15	chr5:58298400-58312600	Weak transcription	Fetal Lung	lung
16	chr5:58298600-58317800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:58299600-58312400	Weak transcription	HSMM	muscle
18	chr5:58299600-58316600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:58299800-58318000	Weak transcription	Right Ventricle	heart
20	chr5:58301200-58313000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:58302000-58312800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:58302000-58315200	Weak transcription	Psoas Muscle	Psoas
23	chr5:58302400-58312200	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr5:58302400-58312800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:58302400-58316200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:58302400-58321600	Weak transcription	Gastric	stomach
27	chr5:58302800-58312600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr5:58302800-58312800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:58302800-58315200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:58303600-58317800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:58304000-58316800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:58304000-58316800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:58304200-58312200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:58304200-58312400	Weak transcription	Hela-S3	cervix
35	chr5:58304800-58312200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:58305400-58313000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:58305800-58315400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:58306000-58312800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr5:58306400-58307400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:58306600-58312000	Weak transcription	A549	lung
41	chr5:58306800-58312400	Weak transcription	Primary T cells from cord blood	blood
42	chr5:58306800-58312600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:58307000-58312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:58307000-58312800	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:58307000-58322000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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