Variant report

Variant	rs62087416
Chromosome Location	chr18:9541226-9541227
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9532714..9535374-chr18:9538011..9541723,5	K562	blood:
2	chr18:9541153..9545740-chr18:9546002..9549579,6	K562	blood:
3	chr18:9536152..9537678-chr18:9540300..9542905,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1036930	0.83[ASN][1000 genomes]
rs12327541	0.83[ASN][1000 genomes]
rs16955297	0.83[ASN][1000 genomes]
rs1942150	0.81[ASN][1000 genomes]
rs2028657	0.83[ASN][1000 genomes]
rs2028659	0.81[ASN][1000 genomes]
rs2277709	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2840354	0.90[ASN][1000 genomes]
rs35234665	0.81[ASN][1000 genomes]
rs35911400	0.81[ASN][1000 genomes]
rs3786174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55841197	0.83[ASN][1000 genomes]
rs56883068	0.83[ASN][1000 genomes]
rs57025551	0.81[ASN][1000 genomes]
rs57539299	0.90[ASN][1000 genomes]
rs58982927	0.90[ASN][1000 genomes]
rs59114729	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59992205	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60290408	0.87[ASN][1000 genomes]
rs61166388	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086114	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086115	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086118	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086119	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086120	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086121	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62086146	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086151	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086152	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086156	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086158	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62086159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087363	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087364	0.81[ASN][1000 genomes]
rs62087368	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087370	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087371	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087372	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62087378	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087406	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62087417	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62087427	0.87[ASN][1000 genomes]
rs62087456	0.83[ASN][1000 genomes]
rs62088860	0.83[ASN][1000 genomes]
rs62088870	0.83[ASN][1000 genomes]
rs62088872	0.83[ASN][1000 genomes]
rs62088873	0.83[ASN][1000 genomes]
rs62088875	0.83[ASN][1000 genomes]
rs62088876	0.83[ASN][1000 genomes]
rs6506677	0.83[ASN][1000 genomes]
rs7233308	0.83[ASN][1000 genomes]
rs7234355	0.83[ASN][1000 genomes]
rs7237018	0.90[ASN][1000 genomes]
rs7238137	0.83[ASN][1000 genomes]
rs7238375	0.81[ASN][1000 genomes]
rs7240572	0.81[ASN][1000 genomes]
rs7241781	0.81[ASN][1000 genomes]
rs72636719	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73393877	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73393880	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395717	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395719	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099027	0.81[ASN][1000 genomes]
rs894757	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9946939	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
2	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
3	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
6	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:9532200-9541800	Strong transcription	Fetal Intestine Small	intestine
8	chr18:9532200-9547600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:9534200-9545800	Weak transcription	Hela-S3	cervix
10	chr18:9534600-9546400	Weak transcription	Aorta	Aorta
11	chr18:9534800-9546600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:9534800-9547200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr18:9535200-9547400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr18:9535200-9556800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr18:9535800-9544800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr18:9535800-9546000	Weak transcription	A549	lung
17	chr18:9535800-9547200	Weak transcription	Fetal Heart	heart
18	chr18:9536000-9541600	Strong transcription	Placenta	Placenta
19	chr18:9536000-9546200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr18:9536000-9546200	Weak transcription	Brain Angular Gyrus	brain
21	chr18:9536200-9546400	Weak transcription	Psoas Muscle	Psoas
22	chr18:9536600-9546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:9536600-9547200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr18:9536800-9545000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr18:9536800-9545000	Weak transcription	Brain Anterior Caudate	brain
26	chr18:9536800-9546400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr18:9536800-9546400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr18:9536800-9546400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr18:9536800-9547000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr18:9536800-9547000	Weak transcription	Pancreas	Pancrea
31	chr18:9536800-9547000	Weak transcription	K562	blood
32	chr18:9536800-9547200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr18:9536800-9549000	Weak transcription	Small Intestine	intestine
34	chr18:9537000-9544600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr18:9537000-9544600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:9537000-9544600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr18:9537000-9545800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr18:9537200-9544800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr18:9537600-9541800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:9538000-9545400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr18:9538000-9546200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:9538200-9545800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr18:9538200-9546200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr18:9538400-9546000	Weak transcription	Ovary	ovary
45	chr18:9538400-9547200	Weak transcription	Fetal Brain Male	brain
46	chr18:9538800-9544000	Weak transcription	Brain Germinal Matrix	brain
47	chr18:9538800-9545000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr18:9538800-9545800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr18:9538800-9546000	Weak transcription	Colon Smooth Muscle	Colon
50	chr18:9538800-9546200	Weak transcription	Rectal Smooth Muscle	rectum

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