Variant report

Variant	rs72911123
Chromosome Location	chr18:44455470-44455471
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44407516..44409436-chr18:44454245..44456431,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs55633240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55650860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55682632	1.00[AFR][1000 genomes]
rs55754830	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55877804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55916944	1.00[AFR][1000 genomes]
rs55929919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56009869	1.00[AFR][1000 genomes]
rs56010507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56050035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56109213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56119924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56132373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56138442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56142565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56148866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56163470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56169983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56236054	1.00[AFR][1000 genomes]
rs56272937	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56297904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56299848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61743415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61743594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903234	0.94[EUR][1000 genomes]
rs72903239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903243	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72903352	1.00[AFR][1000 genomes]
rs72903388	1.00[AFR][1000 genomes]
rs72903391	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72905218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72905257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905296	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72905301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72905460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72905499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907111	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907120	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72907122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907125	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907137	1.00[AFR][1000 genomes]
rs72907140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72907162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72907240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907254	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72909104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72909200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913066	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72917202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919221	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919241	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72919260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8083773	1.00[ASN][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:84 , 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	chr18:44435400-44456000	Weak transcription	Fetal Kidney	kidney
4	chr18:44437200-44461600	Weak transcription	Ovary	ovary
5	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr18:44447600-44457400	Weak transcription	Fetal Heart	heart
7	chr18:44448000-44456400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr18:44449000-44457400	Weak transcription	HSMMtube	muscle
10	chr18:44449000-44468600	Weak transcription	Pancreas	Pancrea
11	chr18:44449000-44468600	Weak transcription	NHLF	lung
12	chr18:44449200-44455800	Weak transcription	Lung	lung
13	chr18:44449200-44456800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr18:44449200-44457200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:44449200-44457400	Weak transcription	Aorta	Aorta
16	chr18:44449200-44457400	Weak transcription	Brain Hippocampus Middle	brain
17	chr18:44449200-44457400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr18:44449200-44457400	Weak transcription	Left Ventricle	heart
19	chr18:44449200-44457400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr18:44449200-44457400	Weak transcription	Thymus	Thymus
21	chr18:44449200-44458800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr18:44449400-44455600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr18:44449400-44455600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:44449400-44455800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:44449400-44457200	Weak transcription	Spleen	Spleen
26	chr18:44449400-44457400	Weak transcription	Colon Smooth Muscle	Colon
27	chr18:44449600-44455600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr18:44449600-44455600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr18:44449600-44455800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr18:44449600-44457000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr18:44449600-44457200	Weak transcription	HepG2	liver
32	chr18:44449600-44457600	Weak transcription	Right Ventricle	heart
33	chr18:44449800-44456400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr18:44449800-44468400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr18:44450200-44455600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr18:44450200-44455600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:44450200-44455600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr18:44450200-44456000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:44450200-44457000	Weak transcription	Liver	Liver
40	chr18:44450200-44457400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr18:44450400-44457400	Weak transcription	Psoas Muscle	Psoas
42	chr18:44450600-44460000	ZNF genes & repeats	Primary T cells from cord blood	blood
43	chr18:44450800-44468600	Weak transcription	Gastric	stomach
44	chr18:44451200-44456200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr18:44451200-44468400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:44451400-44455600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:44451400-44457400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:44451600-44455600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr18:44451800-44460400	ZNF genes & repeats	Fetal Muscle Leg	muscle
50	chr18:44452000-44456000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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