Variant report

Variant	rs72792001
Chromosome Location	chr5:108253809-108253810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs11948881	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11949066	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11949510	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11952227	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11952572	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11953486	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11954716	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11956908	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11958918	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11959492	0.82[AMR][1000 genomes]
rs11959681	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11960713	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3851457	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3851458	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57404758	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72787096	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787098	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787099	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787100	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787101	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72787102	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72789304	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72789305	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72789306	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72789307	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72789308	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72789309	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72789312	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789313	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72789315	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72789316	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789319	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789320	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72789326	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789332	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789333	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72789335	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789341	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789345	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789347	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789348	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789350	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72789352	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72790510	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72790512	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72790514	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72790515	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72793903	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72793905	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72793906	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72793909	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72793918	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72793920	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72793922	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72793923	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72793926	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72793927	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72793933	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7734904	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7735425	0.89[AMR][1000 genomes];0.85[EUR][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	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	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108183800-108260400	Weak transcription	Ovary	ovary
2	chr5:108194600-108260000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:108197000-108268200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:108199200-108271400	Weak transcription	Aorta	Aorta
5	chr5:108203800-108323400	Weak transcription	Primary B cells from cord blood	blood
6	chr5:108208200-108268800	Weak transcription	Primary T cells from cord blood	blood
7	chr5:108214200-108272200	Weak transcription	Gastric	stomach
8	chr5:108217600-108323200	Weak transcription	Left Ventricle	heart
9	chr5:108221400-108280600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:108229600-108269800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:108230200-108302400	Weak transcription	HSMM	muscle
12	chr5:108230600-108260000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:108242200-108271000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:108244200-108295000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:108247200-108277600	Weak transcription	Fetal Lung	lung
16	chr5:108248400-108255400	Weak transcription	Stomach Mucosa	stomach
17	chr5:108250400-108255000	Weak transcription	Fetal Heart	heart
18	chr5:108250400-108277600	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:108252800-108254000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:108252800-108254000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:108253000-108254000	Enhancers	HMEC	breast
22	chr5:108253200-108254000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:108253200-108254000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:108253600-108259800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:108253600-108260000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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