Variant report

Variant	rs8089938
Chromosome Location	chr18:44459497-44459498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10853544	0.95[EUR][1000 genomes]
rs10853545	0.96[EUR][1000 genomes]
rs10853547	0.83[EUR][1000 genomes]
rs11082562	0.86[EUR][1000 genomes]
rs1539878	0.86[EUR][1000 genomes]
rs1789152	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1893427	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2032215	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2051292	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2156050	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2187090	0.94[EUR][1000 genomes]
rs2187092	0.86[EUR][1000 genomes]
rs2510443	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2510444	0.83[EUR][1000 genomes]
rs2956973	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2957007	0.82[EUR][1000 genomes]
rs3892820	0.96[EUR][1000 genomes]
rs4258717	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4548968	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4890341	0.93[EUR][1000 genomes]
rs4890342	0.83[EUR][1000 genomes]
rs4890699	0.83[EUR][1000 genomes]
rs4890703	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4890707	0.90[EUR][1000 genomes]
rs509647	0.87[EUR][1000 genomes]
rs538221	0.83[EUR][1000 genomes]
rs553456	0.87[EUR][1000 genomes]
rs557089	0.83[EUR][1000 genomes]
rs557661	0.82[EUR][1000 genomes]
rs571181	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs577200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs605487	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs607780	0.93[EUR][1000 genomes]
rs626217	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs642897	0.90[EUR][1000 genomes]
rs643233	0.87[ASN][1000 genomes]
rs649076	0.92[EUR][1000 genomes]
rs6507709	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6507712	0.82[ASN][1000 genomes]
rs6507714	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs658756	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs695001	0.90[EUR][1000 genomes]
rs7227700	0.84[EUR][1000 genomes]
rs7234570	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7240239	0.92[EUR][1000 genomes]
rs7244013	0.83[EUR][1000 genomes]
rs7244778	0.83[EUR][1000 genomes]
rs7245049	0.83[EUR][1000 genomes]
rs8091984	0.81[EUR][1000 genomes]
rs8095373	0.84[EUR][1000 genomes]
rs9304337	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304338	0.86[EUR][1000 genomes]
rs9304340	0.87[EUR][1000 genomes]
rs9945443	0.94[EUR][1000 genomes]
rs9962523	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv522397	chr18:44451644-44516088	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44437200-44461600	Weak transcription	Ovary	ovary
2	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
5	chr18:44449000-44468600	Weak transcription	NHLF	lung
6	chr18:44449800-44468400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr18:44450600-44460000	ZNF genes & repeats	Primary T cells from cord blood	blood
8	chr18:44450800-44468600	Weak transcription	Gastric	stomach
9	chr18:44451200-44468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:44451800-44460400	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr18:44452000-44460200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:44452800-44460200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr18:44453400-44468400	Weak transcription	HSMM	muscle
14	chr18:44454000-44468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:44454400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:44454600-44460800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr18:44454800-44460000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
18	chr18:44454800-44460400	ZNF genes & repeats	Dnd41	blood
19	chr18:44454800-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr18:44454800-44460600	Weak transcription	K562	blood
21	chr18:44455400-44460600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:44455600-44461200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr18:44456000-44460600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr18:44456200-44466000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr18:44456400-44459800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr18:44457200-44460400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:44457400-44459800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
28	chr18:44457400-44460600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr18:44457600-44468400	Weak transcription	Small Intestine	intestine
30	chr18:44457800-44460000	Weak transcription	Aorta	Aorta
31	chr18:44457800-44460200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr18:44457800-44468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:44457800-44468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:44457800-44468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr18:44457800-44468400	Weak transcription	Adipose Nuclei	Adipose
36	chr18:44457800-44468400	Weak transcription	Lung	lung
37	chr18:44457800-44468400	Weak transcription	Psoas Muscle	Psoas
38	chr18:44457800-44468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:44457800-44468600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr18:44457800-44468600	Weak transcription	Brain Hippocampus Middle	brain
41	chr18:44457800-44468600	Weak transcription	Left Ventricle	heart
42	chr18:44457800-44468600	Weak transcription	Right Ventricle	heart
43	chr18:44458000-44468200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:44458000-44468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr18:44458000-44468400	Weak transcription	Fetal Thymus	thymus
46	chr18:44458200-44459800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
47	chr18:44458200-44460400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
48	chr18:44458200-44468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:44458200-44468400	Weak transcription	Liver	Liver
50	chr18:44458400-44467800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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