Variant report

Variant	rs72718399
Chromosome Location	chr14:64537829-64537830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129174	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10138308	0.85[EUR][1000 genomes]
rs11158527	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11158528	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847087	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1556587	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101577	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101600	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101624	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17101626	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2357347	0.83[AFR][1000 genomes]
rs57608795	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59807631	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718389	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718390	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718391	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718402	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017952	1.00[AFR][1000 genomes];1.00[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	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:97 , 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	chr14:64492200-64547400	Weak transcription	Colonic Mucosa	Colon
6	chr14:64499000-64538800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:64516600-64541400	Weak transcription	HSMM	muscle
8	chr14:64519000-64541000	Weak transcription	HUVEC	blood vessel
9	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
10	chr14:64519600-64539000	Weak transcription	Right Ventricle	heart
11	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr14:64520400-64539000	Weak transcription	Liver	Liver
13	chr14:64521000-64540800	Weak transcription	Psoas Muscle	Psoas
14	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:64526800-64539000	Weak transcription	Fetal Thymus	thymus
17	chr14:64526800-64540400	Weak transcription	Fetal Kidney	kidney
18	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:64527000-64539600	Weak transcription	Ovary	ovary
20	chr14:64527000-64540200	Weak transcription	Primary B cells from cord blood	blood
21	chr14:64527000-64540800	Weak transcription	Spleen	Spleen
22	chr14:64527000-64547200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:64527200-64539000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr14:64527400-64538400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:64527600-64539000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:64527800-64540400	Weak transcription	Hela-S3	cervix
28	chr14:64527800-64540800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:64527800-64540800	Weak transcription	Esophagus	oesophagus
30	chr14:64527800-64540800	Weak transcription	Gastric	stomach
31	chr14:64527800-64549000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:64527800-64552000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:64527800-64556600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:64528000-64540800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:64528000-64541400	Weak transcription	A549	lung
36	chr14:64528000-64541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:64528000-64557000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr14:64528000-64567400	Weak transcription	Fetal Heart	heart
39	chr14:64528200-64539000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:64528400-64539400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:64528400-64547000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr14:64528600-64541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr14:64529000-64553200	Strong transcription	Dnd41	blood
44	chr14:64529200-64539400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr14:64529400-64538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:64529400-64543000	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr14:64529400-64566800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:64529800-64538800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:64529800-64541000	Weak transcription	HMEC	breast
50	chr14:64529800-64542600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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