Variant report

Variant	rs4258717
Chromosome Location	chr18:44456954-44456955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10070	0.92[ASN][1000 genomes]
rs10853544	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853545	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10853547	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs11082562	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11659693	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1539878	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1539881	0.92[ASN][1000 genomes]
rs1789152	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1893427	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2010834	0.83[EUR][1000 genomes]
rs2032215	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2051292	0.95[EUR][1000 genomes]
rs2156049	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2156050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187090	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2187092	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2510443	0.82[EUR][1000 genomes]
rs2510444	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2571024	0.84[EUR][1000 genomes]
rs2571026	0.83[EUR][1000 genomes]
rs2576051	0.83[EUR][1000 genomes]
rs2956973	0.81[EUR][1000 genomes]
rs2957007	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3744863	0.84[EUR][1000 genomes]
rs3892820	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4548968	0.88[EUR][1000 genomes]
rs477826	0.92[ASN][1000 genomes]
rs478820	0.92[ASN][1000 genomes]
rs4890341	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4890342	0.80[EUR][1000 genomes]
rs4890347	0.82[ASN][1000 genomes]
rs4890698	0.89[ASN][1000 genomes]
rs4890699	0.88[EUR][1000 genomes]
rs4890703	0.87[EUR][1000 genomes]
rs4890707	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs501062	0.92[ASN][1000 genomes]
rs504668	0.92[ASN][1000 genomes]
rs509647	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs513775	0.83[ASN][1000 genomes]
rs538221	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs541634	0.94[ASN][1000 genomes]
rs553456	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs557089	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs557661	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs577200	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs578146	0.96[ASN][1000 genomes]
rs58993513	0.92[ASN][1000 genomes]
rs590923	0.92[ASN][1000 genomes]
rs593340	0.92[ASN][1000 genomes]
rs605487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs607780	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs616900	0.92[ASN][1000 genomes]
rs620228	0.85[ASN][1000 genomes]
rs626217	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641366	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs642897	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs644731	0.95[ASN][1000 genomes]
rs649076	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6507709	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507714	0.87[EUR][1000 genomes]
rs658756	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs693503	0.92[ASN][1000 genomes]
rs695001	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7227700	0.87[EUR][1000 genomes]
rs7234570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240239	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7244013	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7244778	0.88[EUR][1000 genomes]
rs7245049	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8086286	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8089938	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8091984	0.86[EUR][1000 genomes]
rs8095373	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs9304336	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9304337	0.93[EUR][1000 genomes]
rs9304338	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9304340	0.91[EUR][1000 genomes]
rs9945443	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9948405	0.83[ASN][1000 genomes]
rs9954336	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs9962523	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs998819	0.83[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr18:44435000-44457400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr18:44437200-44461600	Weak transcription	Ovary	ovary
4	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr18:44447600-44457400	Weak transcription	Fetal Heart	heart
6	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:44449000-44457400	Weak transcription	HSMMtube	muscle
8	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
9	chr18:44449000-44468600	Weak transcription	NHLF	lung
10	chr18:44449200-44457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:44449200-44457400	Weak transcription	Aorta	Aorta
12	chr18:44449200-44457400	Weak transcription	Brain Hippocampus Middle	brain
13	chr18:44449200-44457400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr18:44449200-44457400	Weak transcription	Left Ventricle	heart
15	chr18:44449200-44457400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr18:44449200-44457400	Weak transcription	Thymus	Thymus
17	chr18:44449200-44458800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr18:44449400-44457200	Weak transcription	Spleen	Spleen
19	chr18:44449400-44457400	Weak transcription	Colon Smooth Muscle	Colon
20	chr18:44449600-44457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr18:44449600-44457200	Weak transcription	HepG2	liver
22	chr18:44449600-44457600	Weak transcription	Right Ventricle	heart
23	chr18:44449800-44468400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:44450200-44457000	Weak transcription	Liver	Liver
25	chr18:44450200-44457400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr18:44450400-44457400	Weak transcription	Psoas Muscle	Psoas
27	chr18:44450600-44460000	ZNF genes & repeats	Primary T cells from cord blood	blood
28	chr18:44450800-44468600	Weak transcription	Gastric	stomach
29	chr18:44451200-44468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:44451400-44457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:44451800-44460400	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr18:44452000-44460200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr18:44452800-44460200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr18:44453400-44468400	Weak transcription	HSMM	muscle
35	chr18:44453600-44457600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:44454000-44457200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:44454000-44457400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr18:44454000-44457400	Weak transcription	HMEC	breast
39	chr18:44454000-44468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr18:44454400-44457400	Weak transcription	A549	lung
41	chr18:44454400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr18:44454600-44460800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr18:44454800-44460000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr18:44454800-44460400	ZNF genes & repeats	Dnd41	blood
45	chr18:44454800-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:44454800-44460600	Weak transcription	K562	blood
47	chr18:44455400-44460600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:44455600-44457800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:44455600-44458200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr18:44455600-44461200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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