Variant report

Variant	rs72909190
Chromosome Location	chr18:44445583-44445584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr18:44445461-44445659	K562	blood:	n/a	n/a
2	TAL1	chr18:44445285-44446076	K562	blood:	n/a	chr18:44445541-44445559
3	NR2F2	chr18:44445346-44445618	K562	blood:	n/a	n/a
4	EP300	chr18:44445349-44445863	K562	blood:	n/a	n/a
5	RCOR1	chr18:44445445-44445620	K562	blood:	n/a	n/a
6	CEBPD	chr18:44445293-44445639	K562	blood:	n/a	n/a
7	GATA2	chr18:44445273-44445647	K562	blood:	n/a	chr18:44445541-44445558
8	TEAD4	chr18:44445277-44445751	K562	blood:	n/a	n/a
9	ZNF384	chr18:44445286-44445981	K562	blood:	n/a	n/a
10	TEAD4	chr18:44445339-44445674	K562	blood:	n/a	n/a

Variant related genes	Relation type
PIAS2	TF binding region

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

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11872472	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11874267	0.92[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874634	0.87[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	0.81[AFR][1000 genomes];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	0.92[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	1.00[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	1.00[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	0.92[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	0.92[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	0.91[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	0.92[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56303451	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56345132	0.85[AFR][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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238877	1.00[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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7240909	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7241858	0.88[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	0.92[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	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	1.00[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	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	0.92[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913091	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	1.00[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917159	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	0.91[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	0.92[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	1.00[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:4 , 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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
2	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
3	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
5	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:44408800-44448200	Weak transcription	Lung	lung
11	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:44414000-44448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr18:44415600-44448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:44420200-44445600	Weak transcription	K562	blood
15	chr18:44423400-44446400	Weak transcription	HSMM	muscle
16	chr18:44425000-44446000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:44432200-44448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:44433000-44448600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:44433800-44446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:44434000-44448000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:44434400-44448200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:44434800-44448200	Weak transcription	Gastric	stomach
23	chr18:44435000-44446000	Weak transcription	NH-A	brain
24	chr18:44435000-44446800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr18:44435000-44447400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr18:44435000-44447800	Weak transcription	Fetal Intestine Small	intestine
27	chr18:44435000-44447800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr18:44435000-44448000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:44435000-44448000	Weak transcription	Liver	Liver
30	chr18:44435000-44448000	Weak transcription	Fetal Lung	lung
31	chr18:44435000-44448000	Weak transcription	HepG2	liver
32	chr18:44435000-44448200	Weak transcription	Fetal Stomach	stomach
33	chr18:44435000-44448400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr18:44435000-44448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr18:44435000-44448400	Weak transcription	Brain Anterior Caudate	brain
36	chr18:44435000-44448600	Weak transcription	Aorta	Aorta
37	chr18:44435000-44448600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr18:44435000-44448600	Weak transcription	Left Ventricle	heart
39	chr18:44435000-44448800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr18:44435000-44457400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:44435400-44445800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:44435400-44446600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:44435400-44446800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr18:44435400-44447800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr18:44435400-44448200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr18:44435400-44448200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr18:44435400-44448400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr18:44435400-44456000	Weak transcription	Fetal Kidney	kidney
49	chr18:44435600-44446200	Weak transcription	Fetal Thymus	thymus
50	chr18:44435600-44448000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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