Variant report

Variant	rs1816632
Chromosome Location	chr18:28742268-28742269
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1370450	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1437605	0.89[EUR][1000 genomes]
rs1437608	0.98[EUR][1000 genomes]
rs1437609	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1437610	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1437611	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1437612	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1816633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118341	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2118342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118343	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2164765	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2164766	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254170	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2254172	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577067	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2577073	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2741000	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2741004	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2851996	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3786167	0.84[AFR][1000 genomes]
rs4325646	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344831	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4361001	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6506886	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6506891	0.89[AFR][1000 genomes]
rs6506892	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7238415	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243239	0.98[EUR][1000 genomes]
rs8090853	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8096368	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951298	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs976749	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs976750	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs976751	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs991482	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9947328	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9948366	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9952351	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9955032	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9955430	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9959845	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9960487	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv3360998	chr18:28693111-28881812	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv132191	chr18:28739028-28745912	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv131242	chr18:28739028-28748058	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28730600-28742600	Weak transcription	Esophagus	oesophagus
2	chr18:28737400-28746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr18:28737600-28742400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:28741400-28742800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr18:28741400-28743200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:28741400-28743200	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr18:28741400-28743200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr18:28742000-28742400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr18:28742000-28742600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr18:28742000-28742600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr18:28742000-28742600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr18:28742000-28742800	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr18:28742000-28743000	Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr18:28742000-28743000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:28742200-28742400	Flanking Active TSS	HMEC	breast
16	chr18:28742200-28742600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:28742200-28742600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr18:28742200-28742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr18:28742200-28742800	Active TSS	Primary T cells fromperipheralblood	blood
20	chr18:28742200-28742800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:28742200-28743000	Flanking Active TSS	NHEK	skin
22	chr18:28742200-28743400	Enhancers	Placenta Amnion	Placenta Amnion

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