Variant report

Variant	rs2457788
Chromosome Location	chr19:22008800-22008801
allele	C/T
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	POLR2A	chr19:22008389-22008911	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22006168..22008886-chr19:22011045..22012715,2	K562	blood:

Variant related genes	Relation type
ENSG00000268438	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16982682	1.00[EUR][1000 genomes]
rs2434999	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2435035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58814097	1.00[EUR][1000 genomes]
rs73929047	1.00[AMR][1000 genomes];1.00[EUR][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	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking 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	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv961194	chr19:21998424-22019912	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21985600-22011000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:21988600-22018000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:21988800-22017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:21989800-22013000	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr19:21990800-22017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:21991200-22010800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21995000-22016600	Weak transcription	K562	blood
8	chr19:21999800-22009000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr19:21999800-22009400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr19:21999800-22018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:22000800-22018200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:22000800-22018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr19:22001000-22012600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:22001000-22014000	Weak transcription	Psoas Muscle	Psoas
15	chr19:22001000-22018000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:22001000-22018000	Weak transcription	Brain Anterior Caudate	brain
17	chr19:22001000-22018000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:22001200-22009200	Weak transcription	Pancreas	Pancrea
19	chr19:22001200-22018200	Weak transcription	Gastric	stomach
20	chr19:22001400-22009200	Weak transcription	Spleen	Spleen
21	chr19:22001400-22012600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:22002000-22014600	Weak transcription	NHLF	lung
23	chr19:22002000-22017800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:22002200-22009000	Weak transcription	Brain Hippocampus Middle	brain
25	chr19:22002600-22018000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:22004000-22014000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:22004000-22015000	ZNF genes & repeats	Dnd41	blood
28	chr19:22004000-22015800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:22004000-22017600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr19:22004000-22017800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:22004200-22010200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:22004200-22010400	ZNF genes & repeats	Primary B cells from cord blood	blood
33	chr19:22004800-22014600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:22005400-22008800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr19:22005800-22009000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:22005800-22009400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:22006000-22009400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr19:22006200-22009200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr19:22006200-22010800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr19:22006200-22010800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr19:22006200-22011400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:22006200-22013000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr19:22006200-22013000	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr19:22006400-22009400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:22006400-22009800	ZNF genes & repeats	Thymus	Thymus
46	chr19:22006400-22010800	Strong transcription	Fetal Lung	lung
47	chr19:22006400-22014800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:22006600-22009000	Weak transcription	NHDF-Ad	bronchial
49	chr19:22006600-22009600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:22006800-22008800	ZNF genes & repeats	Fetal Stomach	stomach

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