Variant report

Variant	rs7226615
Chromosome Location	chr18:29419462-29419463
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11081717	0.95[ASN][1000 genomes]
rs11081718	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11081719	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11081720	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11081722	0.88[ASN][1000 genomes]
rs11081723	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11081724	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11081729	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11659244	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11660557	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11661525	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11662697	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11665424	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11877256	0.88[ASN][1000 genomes]
rs12604691	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12605636	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12606354	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12606379	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12606882	0.87[ASN][1000 genomes]
rs12606962	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12607786	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12608051	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17741796	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17741967	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17742014	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17742105	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17804129	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2276144	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291239	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28654480	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34180462	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35275842	0.84[ASN][1000 genomes]
rs3737373	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3737374	0.93[ASN][1000 genomes]
rs3810001	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3925536	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4539674	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4545895	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55706254	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56303347	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58098304	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093860	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62093864	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62093866	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62093867	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62093868	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62093869	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62093873	0.87[ASN][1000 genomes]
rs62093900	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62093901	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62093903	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62095507	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095508	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095509	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095510	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62095543	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095544	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62095545	0.86[ASN][1000 genomes]
rs62095546	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095547	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62095548	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6506947	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7226713	0.87[ASN][1000 genomes]
rs7228817	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7233234	0.90[ASN][1000 genomes]
rs7234341	0.86[ASN][1000 genomes]
rs7234798	0.88[ASN][1000 genomes]
rs7237879	0.91[ASN][1000 genomes]
rs7239629	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72930222	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9635917	0.87[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	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29406800-29431600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:29407400-29427400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:29407400-29429800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr18:29407400-29432000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:29407800-29431200	Weak transcription	Psoas Muscle	Psoas
8	chr18:29408000-29460200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr18:29408400-29420800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:29408600-29420000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr18:29409000-29420000	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr18:29409000-29420000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr18:29409000-29439000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr18:29409000-29456600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:29409200-29419600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr18:29409600-29430000	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr18:29409600-29430600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr18:29409800-29432000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:29409800-29466600	Weak transcription	Gastric	stomach
21	chr18:29410400-29431400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:29411000-29426200	Weak transcription	Esophagus	oesophagus
23	chr18:29412600-29420800	Strong transcription	Primary B cells from cord blood	blood
24	chr18:29412800-29420200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:29412800-29420200	Strong transcription	Liver	Liver
26	chr18:29412800-29420200	Strong transcription	Dnd41	blood
27	chr18:29412800-29420400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr18:29413000-29420800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr18:29413000-29421000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr18:29413200-29420000	Strong transcription	Placenta	Placenta
31	chr18:29413200-29420600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr18:29413200-29437200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr18:29413800-29456600	Weak transcription	Spleen	Spleen
34	chr18:29414000-29419800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr18:29414200-29420000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr18:29414200-29444800	Strong transcription	Fetal Thymus	thymus
37	chr18:29414400-29419600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr18:29414400-29419600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr18:29414400-29420000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr18:29414400-29448200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr18:29414600-29419800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:29414600-29419800	Strong transcription	Fetal Lung	lung
43	chr18:29414800-29419600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr18:29414800-29419600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr18:29415000-29420000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr18:29415200-29419600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr18:29415600-29420800	Strong transcription	GM12878-XiMat	blood
48	chr18:29415800-29420400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:29415800-29461800	Weak transcription	Fetal Heart	heart
50	chr18:29416000-29432000	Weak transcription	H9 Cell Line	embryonic stem cell

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