Variant report

Variant	rs72913091
Chromosome Location	chr18:44474308-44474309
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	chr18:44468278..44470904-chr18:44471891..44475725,3	MCF-7	breast:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11872472	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11874267	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874582	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874634	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875703	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877331	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11877668	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11877721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877929	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17472	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962181	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35539161	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4084161	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4341835	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4341836	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4640275	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55664322	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55693830	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55710513	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55756567	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55779584	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781503	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819334	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55938990	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56064494	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56095591	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56123148	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56164202	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56188847	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217029	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56250012	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56279708	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298133	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56303451	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56352844	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61738602	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61746775	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6507707	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7230266	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7234512	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238877	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240457	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7240843	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240909	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241858	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7241877	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7242313	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7242451	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7242768	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7243015	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905224	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905246	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72905276	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72907105	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907128	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907132	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907142	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907143	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907177	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907199	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72915093	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917159	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919280	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72919285	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919292	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7506367	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8088346	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089367	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099378	0.89[AMR][1000 genomes];0.89[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44469000-44478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:44469000-44489200	Weak transcription	Fetal Stomach	stomach
3	chr18:44469800-44480400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:44469800-44481800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr18:44469800-44493600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:44469800-44493800	Weak transcription	Lung	lung
7	chr18:44469800-44494600	Weak transcription	Fetal Brain Male	brain
8	chr18:44469800-44495200	Weak transcription	Hela-S3	cervix
9	chr18:44469800-44495400	Weak transcription	Brain Anterior Caudate	brain
10	chr18:44469800-44496000	Weak transcription	HSMMtube	muscle
11	chr18:44469800-44496400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr18:44470000-44475800	Weak transcription	Osteobl	bone
13	chr18:44470200-44482800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr18:44470200-44484000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:44470400-44486200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr18:44470600-44493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:44470600-44495600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr18:44470800-44479000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr18:44470800-44479200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr18:44470800-44479200	Weak transcription	Colon Smooth Muscle	Colon
21	chr18:44470800-44479400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr18:44470800-44479400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr18:44470800-44479400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:44470800-44479600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:44470800-44482200	Weak transcription	Aorta	Aorta
26	chr18:44470800-44482800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr18:44470800-44483400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr18:44470800-44483400	Weak transcription	Fetal Brain Female	brain
29	chr18:44470800-44484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:44470800-44486800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr18:44470800-44493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr18:44470800-44495200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr18:44470800-44495600	Weak transcription	Thymus	Thymus
34	chr18:44470800-44495800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr18:44470800-44495800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:44470800-44495800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:44471000-44474400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:44471000-44475200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:44471000-44475400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr18:44471000-44476400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr18:44471000-44477800	Weak transcription	Fetal Intestine Large	intestine
42	chr18:44471000-44478000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr18:44471000-44478600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr18:44471000-44478600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr18:44471000-44478800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr18:44471000-44479200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:44471000-44479200	Weak transcription	Primary T cells from cord blood	blood
48	chr18:44471000-44479200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr18:44471000-44479200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr18:44471000-44480400	Weak transcription	Fetal Intestine Small	intestine

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