Variant report

Variant	rs548683058
Chromosome Location	chr19:53655666-53655667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53652379..53654527-chr19:53655618..53657758,2	K562	blood:
2	chr19:53655411..53659080-chr19:53660737..53664030,3	K562	blood:

Variant related genes	Relation type
ENSG00000197937	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv960866	chr19:53652539-53662610	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv912351	chr19:53655493-53702508	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53640000-53660600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53640600-53655800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:53643400-53660400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:53645400-53655800	Strong transcription	Muscle Satellite Cultured Cells	--
5	chr19:53645800-53660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:53647400-53656400	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr19:53647600-53658000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:53647800-53659200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:53649000-53660800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:53651400-53656400	Weak transcription	K562	blood
11	chr19:53651400-53657400	Strong transcription	Brain Angular Gyrus	brain
12	chr19:53651800-53655800	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr19:53651800-53660800	Weak transcription	Fetal Heart	heart
14	chr19:53652000-53657400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:53652000-53658000	Strong transcription	Dnd41	blood
16	chr19:53652000-53660400	Weak transcription	Brain Substantia Nigra	brain
17	chr19:53652200-53661000	Weak transcription	HSMMtube	muscle
18	chr19:53652600-53659200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:53652600-53660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr19:53652800-53656600	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:53653000-53657200	Strong transcription	Osteobl	bone
22	chr19:53653000-53660400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:53653000-53660600	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:53653200-53660200	Strong transcription	Fetal Stomach	stomach
25	chr19:53653400-53656400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
26	chr19:53653600-53656000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:53653600-53656400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr19:53653600-53656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:53653600-53656600	Weak transcription	Aorta	Aorta
30	chr19:53653600-53656600	Weak transcription	Gastric	stomach
31	chr19:53653600-53656800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr19:53653600-53656800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:53653600-53657000	Weak transcription	Esophagus	oesophagus
34	chr19:53653600-53657000	Weak transcription	Spleen	Spleen
35	chr19:53653600-53657200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:53653600-53657200	Weak transcription	Pancreas	Pancrea
37	chr19:53653600-53658200	Strong transcription	Ovary	ovary
38	chr19:53653600-53658600	Weak transcription	Left Ventricle	heart
39	chr19:53653600-53659200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr19:53653600-53659600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:53653600-53660000	Weak transcription	Brain Anterior Caudate	brain
42	chr19:53653600-53660000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:53653600-53660000	Weak transcription	Fetal Brain Male	brain
44	chr19:53653600-53660400	Weak transcription	Right Ventricle	heart
45	chr19:53653600-53660600	Weak transcription	Psoas Muscle	Psoas
46	chr19:53653600-53660800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:53653600-53661000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:53653800-53656000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:53653800-53656400	Weak transcription	HSMM	muscle
50	chr19:53653800-53656600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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