Variant report

Variant	rs11081723
Chromosome Location	chr18:29480347-29480348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29474340..29476672-chr18:29479905..29482693,2	K562	blood:

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

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

rs_ID	r²[population]
rs11081717	0.87[ASN][1000 genomes]
rs11081718	0.89[ASN][1000 genomes]
rs11081719	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081720	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081722	0.97[ASN][1000 genomes]
rs11081724	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11081729	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11659244	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11660557	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11661525	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11662697	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11665424	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11877256	0.94[ASN][1000 genomes]
rs12604691	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12605636	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12606354	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12606379	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12606882	0.95[ASN][1000 genomes]
rs12606962	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607786	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12608051	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17741796	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17741967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17742014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17742105	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17804129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276144	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2291239	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28654480	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34180462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35275842	0.90[ASN][1000 genomes]
rs3737373	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3737374	0.90[ASN][1000 genomes]
rs3810001	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3925536	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4539674	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545895	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55706254	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56303347	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58098304	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62093860	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62093864	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62093866	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62093867	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62093868	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62093869	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093873	0.95[ASN][1000 genomes]
rs62093900	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62093901	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62093903	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095507	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62095508	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62095509	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62095510	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095543	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095544	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62095545	0.90[ASN][1000 genomes]
rs62095546	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095547	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62095548	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6506947	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7226615	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7226713	0.94[ASN][1000 genomes]
rs7228817	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7233234	0.94[ASN][1000 genomes]
rs7234341	0.94[ASN][1000 genomes]
rs7234798	0.97[ASN][1000 genomes]
rs7237879	0.92[ASN][1000 genomes]
rs7239629	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72930222	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9635917	0.95[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	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
2	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
3	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv820095	chr18:29477466-29481069	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 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	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
9	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
10	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
11	chr18:29457000-29480400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
13	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:29457400-29484800	Weak transcription	NHEK	skin
15	chr18:29458200-29482600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr18:29458600-29485200	Weak transcription	Brain Substantia Nigra	brain
17	chr18:29459000-29481400	Weak transcription	NHLF	lung
18	chr18:29460400-29501200	Strong transcription	Liver	Liver
19	chr18:29461400-29494200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr18:29461600-29491200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
22	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
23	chr18:29462600-29485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:29462600-29489000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr18:29462800-29485200	Weak transcription	Brain Germinal Matrix	brain
26	chr18:29462800-29486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr18:29463200-29490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:29463400-29509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr18:29463600-29481600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr18:29465000-29489200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:29466200-29486000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr18:29466200-29489000	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr18:29466400-29490800	Strong transcription	Placenta	Placenta
34	chr18:29466600-29485800	Strong transcription	Dnd41	blood
35	chr18:29466800-29489000	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr18:29466800-29489000	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr18:29467200-29481800	Weak transcription	HSMMtube	muscle
38	chr18:29467400-29481000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr18:29467400-29486600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr18:29468200-29491000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr18:29468800-29492000	Weak transcription	Ovary	ovary
42	chr18:29469000-29489200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr18:29469000-29511400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr18:29469600-29483000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr18:29469600-29507000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr18:29470400-29485200	Weak transcription	Fetal Kidney	kidney
47	chr18:29470600-29483800	Weak transcription	Small Intestine	intestine
48	chr18:29472800-29482600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr18:29472800-29484000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:29472800-29512000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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