Variant report

Variant	rs73780580
Chromosome Location	chr5:108146086-108146087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs33940843	1.00[EUR][1000 genomes]
rs35990968	1.00[EUR][1000 genomes]
rs55745292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55769405	1.00[EUR][1000 genomes]
rs55790655	1.00[EUR][1000 genomes]
rs55792714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56002991	1.00[EUR][1000 genomes]
rs56177783	1.00[AMR][1000 genomes]
rs56195269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56228037	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56264243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56805665	1.00[EUR][1000 genomes]
rs56890521	1.00[AMR][1000 genomes]
rs56932426	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57135232	1.00[EUR][1000 genomes]
rs58773536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58862033	1.00[EUR][1000 genomes]
rs60392464	1.00[EUR][1000 genomes]
rs60862365	1.00[AMR][1000 genomes]
rs60944482	1.00[AMR][1000 genomes]
rs6859699	1.00[EUR][1000 genomes]
rs73780541	1.00[AMR][1000 genomes]
rs73780555	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780557	1.00[AMR][1000 genomes]
rs73780561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780569	1.00[AMR][1000 genomes]
rs73780571	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780573	1.00[AMR][1000 genomes]
rs73780577	1.00[AMR][1000 genomes]
rs73780582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73780594	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780595	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73780596	1.00[EUR][1000 genomes]
rs73780598	1.00[EUR][1000 genomes]
rs73780599	1.00[EUR][1000 genomes]
rs73780600	1.00[EUR][1000 genomes]
rs73780602	1.00[EUR][1000 genomes]
rs73781903	1.00[EUR][1000 genomes]
rs73781904	1.00[EUR][1000 genomes]
rs73781906	1.00[EUR][1000 genomes]
rs73781908	1.00[EUR][1000 genomes]
rs73781909	1.00[EUR][1000 genomes]
rs73781912	1.00[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	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv471039	chr5:108133967-108245089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108120600-108146400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:108120800-108146400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:108124600-108146600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:108124800-108149400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:108133200-108146600	Weak transcription	Left Ventricle	heart
6	chr5:108133200-108146800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:108134600-108146600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:108137600-108153000	Weak transcription	Osteobl	bone
9	chr5:108137800-108149000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:108138000-108153200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr5:108140600-108147200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:108140800-108152800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:108142000-108146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:108142000-108146600	Weak transcription	Pancreas	Pancrea
15	chr5:108142000-108147200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:108142400-108146400	Weak transcription	Aorta	Aorta
17	chr5:108144400-108149000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:108144600-108146800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr5:108145000-108147200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:108145400-108146600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr5:108145400-108146800	Strong transcription	Ovary	ovary
22	chr5:108145400-108147000	ZNF genes & repeats	Fetal Lung	lung
23	chr5:108145400-108153000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:108145800-108146200	ZNF genes & repeats	Fetal Brain Female	brain
25	chr5:108145800-108146600	ZNF genes & repeats	A549	lung
26	chr5:108145800-108146800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:108146000-108146200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:108146000-108146200	Enhancers	Esophagus	oesophagus
29	chr5:108146000-108146200	Enhancers	HMEC	breast
30	chr5:108146000-108146400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr5:108146000-108146800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr5:108146000-108146800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:108146000-108146800	ZNF genes & repeats	Fetal Intestine Large	intestine
34	chr5:108146000-108146800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
35	chr5:108146000-108147000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:108146000-108147000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:108146000-108147000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:108146000-108147000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:108146000-108147000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:108146000-108147000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr5:108146000-108147000	ZNF genes & repeats	Fetal Stomach	stomach
42	chr5:108146000-108147000	ZNF genes & repeats	Lung	lung
43	chr5:108146000-108147800	ZNF genes & repeats	NHEK	skin

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