Variant report

Variant	rs72720319
Chromosome Location	chr14:64558396-64558397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64552289..64554602-chr14:64557723..64560400,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10129174	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10136783	0.84[AFR][1000 genomes]
rs10137916	0.87[AFR][1000 genomes]
rs10137972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138308	0.82[AFR][1000 genomes]
rs10141709	0.83[AFR][1000 genomes]
rs10145173	0.84[AFR][1000 genomes]
rs11158527	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11158528	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17101624	0.81[AFR][1000 genomes]
rs17101626	0.86[AFR][1000 genomes]
rs17101637	0.84[AFR][1000 genomes]
rs17101640	0.94[AFR][1000 genomes]
rs17101651	0.81[AFR][1000 genomes]
rs17101659	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35203186	0.98[ASN][1000 genomes]
rs72720306	0.84[AFR][1000 genomes]
rs72720309	0.84[AFR][1000 genomes]
rs72720312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64481400-64574000	Weak transcription	Stomach Mucosa	stomach
3	chr14:64489400-64568600	Weak transcription	Small Intestine	intestine
4	chr14:64491200-64565200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
6	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
9	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:64542800-64574000	Weak transcription	HUVEC	blood vessel
11	chr14:64542800-64575400	Weak transcription	Hela-S3	cervix
12	chr14:64543000-64576400	Weak transcription	NHDF-Ad	bronchial
13	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:64547000-64573800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:64548400-64590800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:64548600-64564800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr14:64548800-64562400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:64549600-64564000	Weak transcription	Right Ventricle	heart
19	chr14:64549600-64564200	Weak transcription	Colonic Mucosa	Colon
20	chr14:64549800-64563600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:64549800-64564200	Weak transcription	Esophagus	oesophagus
22	chr14:64549800-64564600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:64549800-64564600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:64549800-64564600	Weak transcription	Spleen	Spleen
25	chr14:64549800-64570200	Weak transcription	Psoas Muscle	Psoas
26	chr14:64549800-64579800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:64550000-64562400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:64550400-64559200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr14:64550400-64562000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:64550400-64563000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:64550400-64565000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:64551600-64564800	Weak transcription	Primary B cells from cord blood	blood
33	chr14:64551800-64563400	Weak transcription	Brain Germinal Matrix	brain
34	chr14:64551800-64568200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:64552800-64562200	Weak transcription	HSMM	muscle
36	chr14:64554000-64566400	Strong transcription	Dnd41	blood
37	chr14:64554000-64566600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr14:64554200-64560800	Strong transcription	Placenta	Placenta
39	chr14:64554200-64566600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:64554400-64558600	Strong transcription	Adipose Nuclei	Adipose
41	chr14:64554400-64566600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:64554400-64576400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:64554600-64561800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr14:64554800-64558600	Weak transcription	Fetal Thymus	thymus
45	chr14:64555000-64566400	Strong transcription	Primary T cells from cord blood	blood
46	chr14:64555800-64564600	Weak transcription	Liver	Liver
47	chr14:64556400-64560600	Strong transcription	GM12878-XiMat	blood
48	chr14:64556400-64563800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:64556400-64566400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr14:64556600-64558600	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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