Variant report

Variant	rs62345053
Chromosome Location	chr5:14436443-14436444
allele	A/C
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	RUNX3	chr5:14436262-14436640	GM12878	blood:	n/a	n/a
2	ATF2	chr5:14436034-14436738	GM12878	blood:	n/a	n/a
3	BCL3	chr5:14436263-14436707	GM12878	blood:	n/a	n/a
4	ATF2	chr5:14436096-14436617	GM12878	blood:	n/a	n/a
5	NFATC1	chr5:14436008-14436477	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:14435136..14437453-chr5:14439458..14441920,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16903509	0.82[EUR][1000 genomes]
rs17428704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs249808	0.84[EUR][1000 genomes]
rs26185	0.95[AFR][1000 genomes]
rs28416767	0.82[EUR][1000 genomes]
rs28482202	0.82[EUR][1000 genomes]
rs28548493	0.82[EUR][1000 genomes]
rs55812347	0.91[AFR][1000 genomes]
rs58260094	0.82[EUR][1000 genomes]
rs62345048	0.82[EUR][1000 genomes]
rs62345051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62345052	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv461981	chr5:14426611-14509903	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv597240	chr5:14426611-14509903	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14413600-14445000	Weak transcription	Small Intestine	intestine
2	chr5:14422200-14452200	Weak transcription	Thymus	Thymus
3	chr5:14425000-14460800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:14425800-14445800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:14426000-14440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:14426400-14437000	Weak transcription	HepG2	liver
7	chr5:14426800-14438400	Weak transcription	Hela-S3	cervix
8	chr5:14427800-14439800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr5:14427800-14440800	Weak transcription	Gastric	stomach
10	chr5:14428000-14441200	Weak transcription	Esophagus	oesophagus
11	chr5:14428000-14441400	Weak transcription	Placenta	Placenta
12	chr5:14428200-14438000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:14428200-14440400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:14429200-14440400	Weak transcription	Colonic Mucosa	Colon
15	chr5:14429400-14438200	Weak transcription	HUVEC	blood vessel
16	chr5:14429400-14439800	Weak transcription	HMEC	breast
17	chr5:14429400-14440400	Weak transcription	Brain Angular Gyrus	brain
18	chr5:14429400-14440400	Weak transcription	Brain Germinal Matrix	brain
19	chr5:14429600-14437800	Weak transcription	Adipose Nuclei	Adipose
20	chr5:14429600-14437800	Weak transcription	Liver	Liver
21	chr5:14429600-14438200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:14429600-14439200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:14429600-14440400	Weak transcription	Brain Anterior Caudate	brain
24	chr5:14430000-14440200	Weak transcription	Brain Substantia Nigra	brain
25	chr5:14430000-14440400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr5:14430200-14438400	Weak transcription	Pancreas	Pancrea
27	chr5:14430200-14438600	Strong transcription	HSMM	muscle
28	chr5:14430200-14439600	Weak transcription	Fetal Lung	lung
29	chr5:14430200-14439800	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:14430200-14440200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:14430200-14440400	Weak transcription	Fetal Heart	heart
32	chr5:14431200-14442800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr5:14431400-14439800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:14431400-14440200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:14431600-14440400	Weak transcription	Aorta	Aorta
36	chr5:14431600-14440400	Weak transcription	Left Ventricle	heart
37	chr5:14431600-14446000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr5:14432000-14439600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:14432400-14437000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:14432400-14439800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:14432600-14438400	Weak transcription	NHDF-Ad	bronchial
42	chr5:14432600-14439800	Weak transcription	Psoas Muscle	Psoas
43	chr5:14432600-14440400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr5:14432600-14440400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:14433200-14438600	Strong transcription	A549	lung
46	chr5:14433200-14439000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:14433200-14439400	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:14433200-14445600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:14433400-14440800	Strong transcription	Fetal Intestine Large	intestine
50	chr5:14433600-14438400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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