Variant report

Variant	rs72911104
Chromosome Location	chr18:44448695-44448696
allele	C/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	KAP1	chr18:44447848-44449072	HEK293	kidney:	n/a	n/a
2	POLR2A	chr18:44447965-44448850	H1-hESC	embryonic stem cell:	n/a	n/a
3	TAF1	chr18:44448488-44448845	H1-hESC	embryonic stem cell:	n/a	n/a
4	TBP	chr18:44448424-44448752	H1-hESC	embryonic stem cell:	n/a	n/a
5	KAP1	chr18:44448187-44448831	K562	blood:	n/a	n/a
6	POLR2A	chr18:44447821-44449397	H1-hESC	embryonic stem cell:	n/a	n/a
7	KAP1	chr18:44448189-44448826	U2OS	brain:	n/a	n/a
8	POLR2A	chr18:44448139-44449226	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr18:44448504-44449142	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF143	chr18:44448518-44448695	K562	blood:	n/a	n/a
11	TAF7	chr18:44448509-44449338	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr18:44448089-44449399	H1-hESC	embryonic stem cell:	n/a	n/a
13	SETDB1	chr18:44447900-44449610	U2OS	brain:	n/a	n/a
14	CBX3	chr18:44448438-44448814	K562	blood:	n/a	n/a

Variant related genes	Relation type
PIAS2	TF binding region

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs11872317	0.83[AFR][1000 genomes]
rs11872472	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11873793	0.91[AFR][1000 genomes]
rs11874218	0.91[AFR][1000 genomes]
rs11874267	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	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874634	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875527	0.91[AFR][1000 genomes]
rs11875703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	1.00[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877650	0.91[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878135	0.91[AFR][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	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55664322	1.00[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55752024	0.91[AFR][1000 genomes]
rs55756567	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55779584	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[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55938990	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56030315	0.91[AFR][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	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	0.94[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56298133	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56303451	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]
rs56400973	0.91[AFR][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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7238877	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	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	0.88[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	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	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7243309	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]
rs72905274	0.91[AFR][1000 genomes]
rs72905276	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72905289	0.91[AFR][1000 genomes]
rs72905292	0.91[AFR][1000 genomes]
rs72907105	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	0.91[AFR][1000 genomes]
rs72907128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907130	0.91[AFR][1000 genomes]
rs72907132	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907134	0.91[AFR][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]
rs72907196	0.91[AFR][1000 genomes]
rs72907199	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909195	0.91[AFR][1000 genomes]
rs72911106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911111	0.91[AFR][1000 genomes]
rs72911118	0.91[AFR][1000 genomes]
rs72913060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72915084	0.91[AFR][1000 genomes]
rs72915093	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915096	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	0.83[AFR][1000 genomes]
rs72917159	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917161	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917165	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72917176	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72919213	0.91[AFR][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	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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8094449	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:89 , 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	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr18:44435000-44448800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr18:44435000-44457400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:44435400-44456000	Weak transcription	Fetal Kidney	kidney
6	chr18:44437200-44461600	Weak transcription	Ovary	ovary
7	chr18:44440200-44448800	Weak transcription	Brain Hippocampus Middle	brain
8	chr18:44440400-44453400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:44440400-44468400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:44447200-44449800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:44447600-44457400	Weak transcription	Fetal Heart	heart
12	chr18:44447800-44448800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
13	chr18:44447800-44449000	ZNF genes & repeats	Esophagus	oesophagus
14	chr18:44447800-44449000	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr18:44447800-44449200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
16	chr18:44447800-44449400	ZNF genes & repeats	GM12878-XiMat	blood
17	chr18:44447800-44449600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr18:44447800-44449600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
19	chr18:44447800-44449800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
20	chr18:44447800-44449800	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr18:44447800-44450000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:44447800-44450000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:44447800-44450200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr18:44447800-44450200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr18:44447800-44451400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr18:44448000-44449000	ZNF genes & repeats	HSMMtube	muscle
27	chr18:44448000-44449200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:44448000-44449200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:44448000-44449400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr18:44448000-44449400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:44448000-44449600	ZNF genes & repeats	Fetal Lung	lung
32	chr18:44448000-44449800	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr18:44448000-44450200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr18:44448000-44450200	ZNF genes & repeats	Liver	Liver
35	chr18:44448000-44450200	ZNF genes & repeats	Fetal Intestine Large	intestine
36	chr18:44448000-44451000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr18:44448000-44451200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
38	chr18:44448000-44456400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr18:44448000-44460600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr18:44448200-44448800	Weak transcription	Colon Smooth Muscle	Colon
41	chr18:44448200-44448800	Weak transcription	Right Ventricle	heart
42	chr18:44448200-44449000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr18:44448200-44449000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:44448200-44449200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr18:44448200-44449200	ZNF genes & repeats	Lung	lung
46	chr18:44448200-44449400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
47	chr18:44448200-44449400	ZNF genes & repeats	Spleen	Spleen
48	chr18:44448200-44449600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr18:44448200-44449600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr18:44448200-44449800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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