Variant report

Variant	rs17528578
Chromosome Location	chr5:58570599-58570600
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	0.81[AFR][1000 genomes];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	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445953	1.00[AFR][1000 genomes];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]
rs16889518	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444185	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17528522	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17628114	0.89[ASN][1000 genomes]
rs17780175	0.83[ASN][1000 genomes]
rs1823070	0.83[AFR][1000 genomes];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[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947095	1.00[AFR][1000 genomes];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	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6858946	0.81[ASN][1000 genomes]
rs6877508	0.85[AFR][1000 genomes];0.96[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58561000-58571000	Weak transcription	Left Ventricle	heart
2	chr5:58565200-58571000	Weak transcription	Fetal Heart	heart
3	chr5:58567400-58572200	Active TSS	A549	lung
4	chr5:58567600-58570800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:58568200-58572000	Active TSS	Colon Smooth Muscle	Colon
6	chr5:58568200-58572800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr5:58568200-58572800	Active TSS	Stomach Smooth Muscle	stomach
8	chr5:58568400-58572000	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:58568600-58570600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58568600-58571600	Active TSS	Fetal Kidney	kidney
11	chr5:58568600-58572200	Active TSS	Fetal Muscle Trunk	muscle
12	chr5:58568600-58572400	Active TSS	Fetal Muscle Leg	muscle
13	chr5:58568600-58572600	Active TSS	Hela-S3	cervix
14	chr5:58568800-58571600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:58569000-58572200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:58569000-58572200	Active TSS	Fetal Intestine Large	intestine
17	chr5:58569200-58572200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr5:58569200-58572400	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr5:58569400-58572200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:58569800-58570600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:58569800-58571000	Weak transcription	Fetal Brain Female	brain
22	chr5:58569800-58572200	Active TSS	Fetal Stomach	stomach
23	chr5:58570000-58571000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:58570000-58571200	Active TSS	Adipose Nuclei	Adipose
25	chr5:58570000-58571600	Active TSS	Psoas Muscle	Psoas
26	chr5:58570000-58572000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:58570000-58572000	Active TSS	Brain Angular Gyrus	brain
28	chr5:58570000-58572000	Active TSS	Colonic Mucosa	Colon
29	chr5:58570000-58572200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:58570000-58572200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:58570000-58572400	Active TSS	Right Atrium	heart
32	chr5:58570200-58570600	Flanking Active TSS	Fetal Lung	lung
33	chr5:58570200-58570600	Flanking Active TSS	HUVEC	blood vessel
34	chr5:58570200-58570800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:58570200-58570800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:58570200-58571000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:58570200-58571000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:58570200-58571000	Enhancers	Brain Germinal Matrix	brain
39	chr5:58570200-58571000	Enhancers	Fetal Brain Male	brain
40	chr5:58570200-58572000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:58570200-58572200	Active TSS	Brain Anterior Caudate	brain
42	chr5:58570200-58572200	Active TSS	Brain Hippocampus Middle	brain
43	chr5:58570200-58572400	Active TSS	Duodenum Mucosa	Duodenum
44	chr5:58570200-58572400	Active TSS	Fetal Intestine Small	intestine
45	chr5:58570400-58570800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:58570400-58571000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:58570400-58571000	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:58570400-58571400	Active TSS	Primary hematopoietic stem cells	blood
49	chr5:58570400-58571600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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