Variant report

Variant	rs16889518
Chromosome Location	chr5:58571617-58571618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1031197	0.83[ASN][1000 genomes]
rs10491352	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10940644	0.83[EUR][1000 genomes]
rs11959132	0.83[EUR][1000 genomes]
rs12189022	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12518773	0.97[ASN][1000 genomes]
rs12519611	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12521263	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12522944	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1445948	0.81[ASN][1000 genomes]
rs1445952	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445953	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445954	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1579848	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1579849	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16889479	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16889499	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17444185	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17528522	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528578	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17628114	0.89[ASN][1000 genomes]
rs17780175	0.83[ASN][1000 genomes]
rs1823070	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1840846	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1867711	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1867712	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1947090	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947095	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2028836	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4700328	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858946	0.81[ASN][1000 genomes]
rs6877508	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6888028	0.81[ASN][1000 genomes]
rs7717303	0.81[ASN][1000 genomes]
rs7719441	0.80[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	nsv598252	chr5:58487764-58618889	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1023628	chr5:58557950-58757438	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv917274	chr5:58565291-58814374	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58567400-58572200	Active TSS	A549	lung
2	chr5:58568200-58572000	Active TSS	Colon Smooth Muscle	Colon
3	chr5:58568200-58572800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:58568200-58572800	Active TSS	Stomach Smooth Muscle	stomach
5	chr5:58568400-58572000	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:58568600-58572200	Active TSS	Fetal Muscle Trunk	muscle
7	chr5:58568600-58572400	Active TSS	Fetal Muscle Leg	muscle
8	chr5:58568600-58572600	Active TSS	Hela-S3	cervix
9	chr5:58569000-58572200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:58569000-58572200	Active TSS	Fetal Intestine Large	intestine
11	chr5:58569200-58572200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr5:58569200-58572400	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr5:58569400-58572200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:58569800-58572200	Active TSS	Fetal Stomach	stomach
15	chr5:58570000-58572000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:58570000-58572000	Active TSS	Brain Angular Gyrus	brain
17	chr5:58570000-58572000	Active TSS	Colonic Mucosa	Colon
18	chr5:58570000-58572200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:58570000-58572200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:58570000-58572400	Active TSS	Right Atrium	heart
21	chr5:58570200-58572000	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr5:58570200-58572200	Active TSS	Brain Anterior Caudate	brain
23	chr5:58570200-58572200	Active TSS	Brain Hippocampus Middle	brain
24	chr5:58570200-58572400	Active TSS	Duodenum Mucosa	Duodenum
25	chr5:58570200-58572400	Active TSS	Fetal Intestine Small	intestine
26	chr5:58570600-58572200	Active TSS	Fetal Lung	lung
27	chr5:58570600-58572600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:58570800-58571800	Active TSS	Placenta Amnion	Placenta Amnion
29	chr5:58570800-58572000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr5:58570800-58572200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:58570800-58572200	Active TSS	Brain Substantia Nigra	brain
32	chr5:58570800-58572200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr5:58570800-58572200	Active TSS	HMEC	breast
34	chr5:58570800-58572400	Active TSS	Osteobl	bone
35	chr5:58571000-58571800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:58571000-58571800	Active TSS	Fetal Thymus	thymus
37	chr5:58571000-58571800	Active TSS	Small Intestine	intestine
38	chr5:58571000-58572000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:58571000-58572000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr5:58571000-58572000	Active TSS	Primary B cells from cord blood	blood
41	chr5:58571000-58572000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
42	chr5:58571000-58572000	Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:58571000-58572000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:58571000-58572000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:58571000-58572000	Active TSS	Brain Cingulate Gyrus	brain
46	chr5:58571000-58572000	Active TSS	Ovary	ovary
47	chr5:58571000-58572000	Active TSS	Right Ventricle	heart
48	chr5:58571000-58572000	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr5:58571000-58572200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:58571000-58572200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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