Variant report

Variant	rs73053113
Chromosome Location	chr19:55766400-55766401
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55766270..55768327-chr19:55917857..55920596,3	K562	blood:
2	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
3	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
4	chr19:55726487..55728063-chr19:55766262..55769057,2	MCF-7	breast:
5	chr19:55724113..55730012-chr19:55766381..55773608,39	K562	blood:
6	chr19:55765021..55768327-chr19:55917514..55921278,5	K562	blood:
7	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
8	chr19:55744214..55746225-chr19:55765691..55767330,2	K562	blood:
9	chr19:55764962..55767529-chr8:145058466..145061128,2	MCF-7	breast:
10	chr19:55732279..55738678-chr19:55765531..55770516,7	K562	blood:
11	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:
12	chr19:55766019..55768173-chr19:55952216..55954290,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108107	Chromatin interaction
ENSG00000266462	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000187902	Chromatin interaction
ENSG00000178685	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000269808	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4806654	0.98[EUR][1000 genomes]
rs66951554	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73053121	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73068656	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55750800-55767000	Weak transcription	HSMM	muscle
2	chr19:55756000-55766400	Weak transcription	Small Intestine	intestine
3	chr19:55756400-55766600	Weak transcription	Fetal Kidney	kidney
4	chr19:55757400-55767400	Weak transcription	Fetal Lung	lung
5	chr19:55757600-55767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:55757600-55767600	Weak transcription	HSMMtube	muscle
7	chr19:55757600-55768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:55758000-55768200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:55758400-55767400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:55758400-55767600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:55758400-55769000	Weak transcription	Aorta	Aorta
12	chr19:55758800-55767600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr19:55759400-55767200	Enhancers	Stomach Mucosa	stomach
14	chr19:55759600-55768200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:55760000-55766600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:55760400-55766800	Weak transcription	Fetal Heart	heart
17	chr19:55760400-55766800	Weak transcription	HMEC	breast
18	chr19:55760400-55768600	Weak transcription	Ovary	ovary
19	chr19:55763200-55766400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:55763400-55766800	Weak transcription	Osteobl	bone
21	chr19:55763400-55767600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:55763600-55766400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:55763600-55766600	Weak transcription	K562	blood
24	chr19:55763600-55766800	Weak transcription	A549	lung
25	chr19:55763600-55767000	Weak transcription	NH-A	brain
26	chr19:55763800-55766800	Weak transcription	NHEK	skin
27	chr19:55763800-55767800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:55764200-55768200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:55764200-55769200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr19:55764200-55769600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr19:55764200-55769600	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr19:55764200-55769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:55764400-55766400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr19:55764400-55767000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:55764400-55768800	Transcr. at gene 5' and 3'	Dnd41	blood
36	chr19:55764400-55769200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr19:55764400-55769400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr19:55764600-55767800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr19:55764600-55768600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr19:55764600-55769400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr19:55764600-55769600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr19:55764600-55769600	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr19:55764600-55769600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:55764800-55768400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr19:55764800-55768400	Enhancers	Pancreas	Pancrea
46	chr19:55764800-55768600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr19:55764800-55769800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:55764800-55770400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:55765000-55766400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr19:55765000-55767400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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