Variant report

Variant	rs6894116
Chromosome Location	chr5:56990370-56990371
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10057804	0.81[EUR][1000 genomes]
rs10487615	0.81[EUR][1000 genomes]
rs10940574	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12514617	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12514618	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12520466	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12522697	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12523004	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12654040	0.81[EUR][1000 genomes]
rs16887298	0.81[EUR][1000 genomes]
rs17689645	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17689832	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2160057	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2192367	0.81[EUR][1000 genomes]
rs2192368	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2215419	0.81[EUR][1000 genomes]
rs2898027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58041565	0.81[EUR][1000 genomes]
rs58266257	0.81[EUR][1000 genomes]
rs62358372	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358374	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62358380	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62358381	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62361169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6862527	0.81[EUR][1000 genomes]
rs6870485	0.81[EUR][1000 genomes]
rs72767430	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72767434	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72767441	0.80[EUR][1000 genomes]
rs741181	0.80[EUR][1000 genomes]
rs7714714	0.81[EUR][1000 genomes]
rs7717808	0.81[EUR][1000 genomes]
rs7734079	0.81[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	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:56985600-56990400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:56986800-56991800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:56987000-56992800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:56987400-56994800	Weak transcription	Right Ventricle	heart
5	chr5:56987600-56991400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:56987600-56991800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:56988200-56993400	Enhancers	Brain Angular Gyrus	brain
8	chr5:56988400-56990600	Enhancers	HepG2	liver
9	chr5:56988400-56991600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:56988400-56991800	Enhancers	Fetal Lung	lung
11	chr5:56988600-56995400	Enhancers	Adipose Nuclei	Adipose
12	chr5:56989000-56992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:56989200-56990600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:56989200-56990600	Weak transcription	Left Ventricle	heart
15	chr5:56989200-56990600	Weak transcription	Pancreas	Pancrea
16	chr5:56989200-56990600	Weak transcription	Right Atrium	heart
17	chr5:56989200-56991000	Enhancers	Brain Hippocampus Middle	brain
18	chr5:56989200-56991000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:56989200-56991200	Weak transcription	Esophagus	oesophagus
20	chr5:56989200-56991200	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:56989200-56991600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:56989400-56990400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:56989400-56991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:56989400-56996000	Enhancers	Fetal Heart	heart
25	chr5:56989600-56990600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:56989600-56990600	Weak transcription	Fetal Intestine Large	intestine
27	chr5:56989600-56990600	Weak transcription	Ovary	ovary
28	chr5:56989600-56991000	Weak transcription	Stomach Mucosa	stomach
29	chr5:56989600-56991200	Weak transcription	Aorta	Aorta
30	chr5:56989600-56991800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:56989600-56992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:56989600-56992200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:56989600-56992600	Weak transcription	NHLF	lung
34	chr5:56989600-56993000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr5:56989600-56993400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:56989600-56994000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:56989600-56994600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:56989600-56996400	Weak transcription	Psoas Muscle	Psoas
39	chr5:56989800-56990400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:56989800-56990600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr5:56989800-56990800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr5:56989800-56991800	Weak transcription	K562	blood
43	chr5:56989800-56992000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:56989800-56992200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:56989800-56992600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr5:56989800-56992600	Weak transcription	NHDF-Ad	bronchial
47	chr5:56989800-56993000	Enhancers	Brain Anterior Caudate	brain
48	chr5:56989800-56993600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:56989800-56993600	Weak transcription	HSMM	muscle
50	chr5:56990000-56990400	Weak transcription	Brain Cingulate Gyrus	brain

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