Variant report

Variant	rs8111923
Chromosome Location	chr19:22021828-22021829
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	CEBPB	chr19:22021557-22022113	IMR90	lung:	n/a	chr19:22021948-22021959
2	CEBPB	chr19:22021783-22022082	HepG2	liver:	n/a	chr19:22021948-22021959

Variant related genes	Relation type
ZNF43	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11671415	0.82[ASN][1000 genomes]
rs12460775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12460998	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12462709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463030	0.82[ASN][1000 genomes]
rs12463064	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1510964	0.95[ASN][1000 genomes]
rs17701305	0.82[ASN][1000 genomes]
rs17701366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136890	0.95[ASN][1000 genomes]
rs2435003	0.95[ASN][1000 genomes]
rs2435006	0.95[ASN][1000 genomes]
rs2435041	0.95[ASN][1000 genomes]
rs2435044	0.95[ASN][1000 genomes]
rs2457773	0.95[ASN][1000 genomes]
rs2457785	0.95[ASN][1000 genomes]
rs2457802	0.95[ASN][1000 genomes]
rs3764576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56904798	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58664716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60272092	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv911429	chr19:21986292-22110219	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911430	chr19:22008229-22106951	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1062497	chr19:22013911-22102714	Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv543949	chr19:22013911-22102714	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv917200	chr19:22020157-22101914	Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22019000-22022200	Weak transcription	Spleen	Spleen
2	chr19:22019000-22022400	Weak transcription	Lung	lung
3	chr19:22019000-22022600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:22019000-22022600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:22019000-22022800	Weak transcription	Gastric	stomach
6	chr19:22019000-22024800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:22019000-22027800	Weak transcription	Small Intestine	intestine
8	chr19:22019000-22034200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:22019200-22022000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:22019200-22022200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:22019200-22022600	Weak transcription	Aorta	Aorta
12	chr19:22019200-22022800	Weak transcription	Esophagus	oesophagus
13	chr19:22019200-22023000	Weak transcription	NHEK	skin
14	chr19:22019200-22023600	Weak transcription	HSMMtube	muscle
15	chr19:22019200-22025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:22019200-22034000	Weak transcription	Colonic Mucosa	Colon
17	chr19:22019200-22034400	Weak transcription	Stomach Mucosa	stomach
18	chr19:22019400-22022400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:22019400-22022400	Weak transcription	NH-A	brain
20	chr19:22019400-22023800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:22019400-22033600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr19:22019600-22022000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:22019600-22022200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:22019600-22022200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr19:22019600-22022200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:22019600-22022200	Weak transcription	Fetal Brain Female	brain
27	chr19:22019600-22022200	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:22019600-22022200	Weak transcription	Fetal Stomach	stomach
29	chr19:22019600-22022200	Weak transcription	A549	lung
30	chr19:22019600-22022200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr19:22019600-22022400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr19:22019600-22022400	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr19:22019600-22022400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:22019600-22022400	Weak transcription	Brain Angular Gyrus	brain
35	chr19:22019600-22022400	Weak transcription	Brain Anterior Caudate	brain
36	chr19:22019600-22022400	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:22019600-22022400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr19:22019600-22022400	Weak transcription	Fetal Intestine Large	intestine
39	chr19:22019600-22022400	Weak transcription	Left Ventricle	heart
40	chr19:22019600-22022600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:22019600-22022600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:22019600-22022600	Weak transcription	Colon Smooth Muscle	Colon
43	chr19:22019600-22022600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:22019600-22022800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr19:22019600-22022800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:22019600-22022800	Weak transcription	Adipose Nuclei	Adipose
47	chr19:22019600-22022800	Weak transcription	Pancreas	Pancrea
48	chr19:22019600-22022800	Weak transcription	NHLF	lung
49	chr19:22019600-22023000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:22019600-22023000	Weak transcription	Brain Substantia Nigra	brain

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