Variant report

Variant	rs16887298
Chromosome Location	chr5:56990483-56990484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10057804	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189365	0.81[ASN][1000 genomes]
rs12523004	0.81[EUR][1000 genomes]
rs12654040	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12654351	1.00[ASN][1000 genomes]
rs12654963	0.81[ASN][1000 genomes]
rs12655658	0.98[ASN][1000 genomes]
rs12658940	1.00[ASN][1000 genomes]
rs13176491	0.86[AFR][1000 genomes]
rs2215419	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2898027	0.81[EUR][1000 genomes]
rs58041565	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58266257	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59516621	0.91[ASN][1000 genomes]
rs59697426	0.81[ASN][1000 genomes]
rs61220614	0.91[ASN][1000 genomes]
rs62361169	0.81[EUR][1000 genomes]
rs6860385	0.88[AFR][1000 genomes]
rs6862527	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6894116	0.81[EUR][1000 genomes]
rs73089817	1.00[ASN][1000 genomes]
rs73089845	0.85[ASN][1000 genomes]
rs73089868	0.81[ASN][1000 genomes]
rs73089872	0.81[ASN][1000 genomes]
rs73089877	0.81[ASN][1000 genomes]
rs7714714	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7717808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7734079	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978225	0.84[AFR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56986800-56991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:56987000-56992800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:56987400-56994800	Weak transcription	Right Ventricle	heart
4	chr5:56987600-56991400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:56987600-56991800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:56988200-56993400	Enhancers	Brain Angular Gyrus	brain
7	chr5:56988400-56990600	Enhancers	HepG2	liver
8	chr5:56988400-56991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:56988400-56991800	Enhancers	Fetal Lung	lung
10	chr5:56988600-56995400	Enhancers	Adipose Nuclei	Adipose
11	chr5:56989000-56992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:56989200-56990600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:56989200-56990600	Weak transcription	Left Ventricle	heart
14	chr5:56989200-56990600	Weak transcription	Pancreas	Pancrea
15	chr5:56989200-56990600	Weak transcription	Right Atrium	heart
16	chr5:56989200-56991000	Enhancers	Brain Hippocampus Middle	brain
17	chr5:56989200-56991000	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:56989200-56991200	Weak transcription	Esophagus	oesophagus
19	chr5:56989200-56991200	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:56989200-56991600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:56989400-56991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:56989400-56996000	Enhancers	Fetal Heart	heart
23	chr5:56989600-56990600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:56989600-56990600	Weak transcription	Fetal Intestine Large	intestine
25	chr5:56989600-56990600	Weak transcription	Ovary	ovary
26	chr5:56989600-56991000	Weak transcription	Stomach Mucosa	stomach
27	chr5:56989600-56991200	Weak transcription	Aorta	Aorta
28	chr5:56989600-56991800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:56989600-56992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:56989600-56992200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:56989600-56992600	Weak transcription	NHLF	lung
32	chr5:56989600-56993000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr5:56989600-56993400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:56989600-56994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr5:56989600-56994600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:56989600-56996400	Weak transcription	Psoas Muscle	Psoas
37	chr5:56989800-56990600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:56989800-56990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:56989800-56991800	Weak transcription	K562	blood
40	chr5:56989800-56992000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:56989800-56992200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:56989800-56992600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr5:56989800-56992600	Weak transcription	NHDF-Ad	bronchial
44	chr5:56989800-56993000	Enhancers	Brain Anterior Caudate	brain
45	chr5:56989800-56993600	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:56989800-56993600	Weak transcription	HSMM	muscle
47	chr5:56990000-56990800	Enhancers	Liver	Liver
48	chr5:56990000-56992000	Weak transcription	HUVEC	blood vessel
49	chr5:56990000-56992600	Weak transcription	Osteobl	bone
50	chr5:56990000-56993600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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