Variant report

Variant	rs60288752
Chromosome Location	chr18:43518750-43518751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10432160	0.87[ASN][1000 genomes]
rs10432197	0.87[ASN][1000 genomes]
rs11082497	0.89[ASN][1000 genomes]
rs11082498	0.89[ASN][1000 genomes]
rs11082499	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11082501	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11661333	0.89[ASN][1000 genomes]
rs11665273	0.89[ASN][1000 genomes]
rs12232683	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12454420	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12604430	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12604492	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12604880	0.89[ASN][1000 genomes]
rs12953791	0.89[ASN][1000 genomes]
rs12954728	0.89[ASN][1000 genomes]
rs1371976	0.97[ASN][1000 genomes]
rs1573404	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1573405	0.90[ASN][1000 genomes]
rs1893523	0.89[ASN][1000 genomes]
rs2004084	0.88[ASN][1000 genomes]
rs2004085	0.97[ASN][1000 genomes]
rs28430300	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28729696	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34775986	0.95[ASN][1000 genomes]
rs3744996	0.90[ASN][1000 genomes]
rs3745000	0.89[ASN][1000 genomes]
rs3826634	0.89[ASN][1000 genomes]
rs4629066	0.89[ASN][1000 genomes]
rs57011365	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57484487	0.90[ASN][1000 genomes]
rs57531499	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58306126	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58312765	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59884993	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60866799	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61363974	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61680317	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6507648	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6507652	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7226881	0.85[ASN][1000 genomes]
rs7230104	0.88[ASN][1000 genomes]
rs7234750	0.97[ASN][1000 genomes]
rs7235022	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7235629	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7237861	0.83[EUR][1000 genomes]
rs7238229	0.89[ASN][1000 genomes]
rs7242733	0.84[ASN][1000 genomes]
rs72918390	0.85[ASN][1000 genomes]
rs73953913	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73953914	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8086343	0.89[ASN][1000 genomes]
rs8086401	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8087546	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8088080	0.94[ASN][1000 genomes]
rs8088153	0.81[ASN][1000 genomes]
rs8091448	0.90[ASN][1000 genomes]
rs8093119	0.82[ASN][1000 genomes]
rs8094023	0.94[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs8097415	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8097963	0.89[ASN][1000 genomes]
rs8098012	0.95[ASN][1000 genomes]
rs8098175	0.91[ASN][1000 genomes]
rs8098701	0.84[ASN][1000 genomes]
rs9946797	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9946933	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9947914	0.89[ASN][1000 genomes]
rs9948988	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9955285	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9955829	0.95[ASN][1000 genomes]
rs9957288	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9958844	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9959763	0.92[ASN][1000 genomes]
rs9959893	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9960220	0.89[ASN][1000 genomes]
rs9960231	0.89[ASN][1000 genomes]
rs9962353	0.95[ASN][1000 genomes]
rs9963463	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9964220	0.85[ASN][1000 genomes]
rs9964347	0.88[ASN][1000 genomes]
rs9964996	0.89[ASN][1000 genomes]
rs9965433	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:43469800-43519000	Weak transcription	A549	lung
3	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
6	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
8	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
11	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
13	chr18:43494200-43520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr18:43496400-43518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:43496600-43518800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:43499800-43535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr18:43501000-43518800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr18:43501200-43535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:43501200-43536000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr18:43502600-43519400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr18:43503400-43518800	Weak transcription	NHEK	skin
22	chr18:43505000-43528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr18:43505200-43518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:43505200-43519200	Weak transcription	HMEC	breast
25	chr18:43505800-43520000	Weak transcription	Small Intestine	intestine
26	chr18:43505800-43520600	Weak transcription	Psoas Muscle	Psoas
27	chr18:43509000-43518800	Weak transcription	Brain Substantia Nigra	brain
28	chr18:43509200-43520800	Weak transcription	Fetal Brain Male	brain
29	chr18:43509600-43518800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr18:43510000-43523000	Strong transcription	Fetal Stomach	stomach
31	chr18:43510400-43518800	Weak transcription	Colonic Mucosa	Colon
32	chr18:43511000-43519600	Weak transcription	Fetal Kidney	kidney
33	chr18:43511400-43519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr18:43511600-43519200	Weak transcription	HUVEC	blood vessel
35	chr18:43511600-43519400	Weak transcription	Fetal Heart	heart
36	chr18:43512200-43536400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr18:43512400-43535200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr18:43512400-43535600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:43512600-43531000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:43514200-43521600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr18:43514200-43526800	Strong transcription	NHDF-Ad	bronchial
42	chr18:43514400-43518800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr18:43514400-43529400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr18:43514400-43536200	Strong transcription	Fetal Thymus	thymus
45	chr18:43514400-43536400	Strong transcription	Dnd41	blood
46	chr18:43514400-43537000	Strong transcription	Primary B cells from cord blood	blood
47	chr18:43514600-43529200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr18:43514600-43536400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:43515400-43521600	Strong transcription	Brain Hippocampus Middle	brain
50	chr18:43515800-43518800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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