Variant report

Variant	rs11672812
Chromosome Location	chr19:53714139-53714140
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	ZNF274	chr19:53713957-53714149	GM08714	blood:	n/a	n/a

Variant related genes	Relation type
ZNF818P	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10425196	0.81[ASN][1000 genomes]
rs10775558	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10853858	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10853859	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11084227	0.81[ASN][1000 genomes]
rs1136205	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11672910	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12610730	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28734122	0.81[ASN][1000 genomes]
rs36114232	0.81[ASN][1000 genomes]
rs4801968	0.81[ASN][1000 genomes]
rs4801969	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4801970	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4803069	0.81[ASN][1000 genomes]
rs59782712	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62117782	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr19:53701400-53715200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
2	chr19:53701600-53715400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr19:53701600-53720200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
4	chr19:53701600-53724800	ZNF genes & repeats	Liver	Liver
5	chr19:53701600-53725000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:53701600-53725000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr19:53701800-53718400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr19:53701800-53725400	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:53702200-53715200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
10	chr19:53702400-53724800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:53703400-53715200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr19:53703600-53715000	ZNF genes & repeats	Ovary	ovary
13	chr19:53705200-53715000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr19:53706600-53716600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr19:53710600-53716800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:53711200-53714600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
17	chr19:53711200-53715200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:53711200-53715800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:53711200-53716400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
20	chr19:53711200-53716600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr19:53711200-53717000	ZNF genes & repeats	Colon Smooth Muscle	Colon
22	chr19:53711200-53718000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:53711200-53720200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr19:53711400-53714800	Strong transcription	Placenta Amnion	Placenta Amnion
25	chr19:53711400-53715000	ZNF genes & repeats	Left Ventricle	heart
26	chr19:53711400-53715200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
27	chr19:53711400-53716400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
28	chr19:53711400-53716800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
29	chr19:53711400-53717000	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr19:53711600-53714200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
31	chr19:53711600-53714800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:53711600-53714800	ZNF genes & repeats	Thymus	Thymus
33	chr19:53711600-53715000	ZNF genes & repeats	Colonic Mucosa	Colon
34	chr19:53711600-53715200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr19:53711600-53716800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
36	chr19:53711600-53716800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
37	chr19:53711600-53717000	ZNF genes & repeats	Brain Hippocampus Middle	brain
38	chr19:53711800-53714800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:53711800-53715000	ZNF genes & repeats	Right Ventricle	heart
40	chr19:53711800-53715200	ZNF genes & repeats	Fetal Brain Female	brain
41	chr19:53711800-53716800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
42	chr19:53711800-53716800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
43	chr19:53711800-53717000	ZNF genes & repeats	Brain Angular Gyrus	brain
44	chr19:53711800-53718000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:53712000-53714200	ZNF genes & repeats	Gastric	stomach
46	chr19:53712000-53714800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:53712000-53714800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr19:53712000-53714800	ZNF genes & repeats	Stomach Mucosa	stomach
49	chr19:53712000-53715000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr19:53712000-53717000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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