Variant report

Variant	rs56119924
Chromosome Location	chr18:44467260-44467261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs55633240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55754830	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55877804	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55929919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56003577	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56010507	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56050035	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56101223	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56109213	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56132373	1.00[AMR][1000 genomes]
rs56138442	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56142565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56148866	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56163470	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56169983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272937	0.94[EUR][1000 genomes]
rs56297904	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56299848	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61743415	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61743594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903234	0.94[EUR][1000 genomes]
rs72903239	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903243	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903245	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903247	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903249	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903269	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903273	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903277	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903280	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903291	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903295	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903391	0.80[EUR][1000 genomes]
rs72905218	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905234	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905239	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905257	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905263	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905266	1.00[AMR][1000 genomes]
rs72905286	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905296	0.80[EUR][1000 genomes]
rs72905301	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905420	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905424	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905425	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905429	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905435	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905443	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905444	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905446	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905450	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905454	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72905460	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905499	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907111	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907120	0.87[EUR][1000 genomes]
rs72907122	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907125	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907140	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907146	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907148	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907151	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907152	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907162	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907165	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907174	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907220	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907225	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907230	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907240	1.00[AMR][1000 genomes]
rs72907243	1.00[AMR][1000 genomes]
rs72907247	1.00[AMR][1000 genomes]
rs72907254	1.00[AMR][1000 genomes]
rs72907261	1.00[AMR][1000 genomes]
rs72907269	1.00[AMR][1000 genomes]
rs72907290	1.00[AMR][1000 genomes]
rs72907298	1.00[AMR][1000 genomes]
rs72909104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909181	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72909200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911123	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913075	1.00[EUR][1000 genomes]
rs72913087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919221	1.00[EUR][1000 genomes]
rs72919226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919241	1.00[EUR][1000 genomes]
rs72919260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921319	1.00[AMR][1000 genomes];1.00[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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
3	chr18:44449000-44468600	Weak transcription	NHLF	lung
4	chr18:44449800-44468400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr18:44450800-44468600	Weak transcription	Gastric	stomach
6	chr18:44451200-44468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr18:44453400-44468400	Weak transcription	HSMM	muscle
8	chr18:44454000-44468600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr18:44454400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:44457600-44468400	Weak transcription	Small Intestine	intestine
11	chr18:44457800-44468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:44457800-44468400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:44457800-44468400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:44457800-44468400	Weak transcription	Adipose Nuclei	Adipose
15	chr18:44457800-44468400	Weak transcription	Lung	lung
16	chr18:44457800-44468400	Weak transcription	Psoas Muscle	Psoas
17	chr18:44457800-44468600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:44457800-44468600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr18:44457800-44468600	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:44457800-44468600	Weak transcription	Left Ventricle	heart
21	chr18:44457800-44468600	Weak transcription	Right Ventricle	heart
22	chr18:44458000-44468200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr18:44458000-44468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr18:44458000-44468400	Weak transcription	Fetal Thymus	thymus
25	chr18:44458200-44468400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:44458200-44468400	Weak transcription	Liver	Liver
27	chr18:44458400-44467800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:44458400-44468400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:44458800-44468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:44458800-44468400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr18:44458800-44468400	Weak transcription	Fetal Stomach	stomach
32	chr18:44458800-44468400	Weak transcription	Thymus	Thymus
33	chr18:44458800-44468800	Weak transcription	Hela-S3	cervix
34	chr18:44459200-44468200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:44459200-44468400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr18:44459200-44468400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr18:44459200-44468400	Weak transcription	HSMMtube	muscle
38	chr18:44459200-44468600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:44459200-44469000	Weak transcription	NHDF-Ad	bronchial
40	chr18:44459400-44468400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr18:44459400-44468400	Weak transcription	Fetal Intestine Large	intestine
42	chr18:44459600-44468000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr18:44459600-44468400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr18:44459800-44468400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:44459800-44468400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:44459800-44468600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr18:44460000-44468200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr18:44460000-44468400	Weak transcription	Primary B cells from cord blood	blood
49	chr18:44460000-44468400	Weak transcription	Brain Anterior Caudate	brain
50	chr18:44460200-44468200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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