Variant report

Variant	rs72718393
Chromosome Location	chr14:64529791-64529792
allele	A/T
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]
rs72718394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718399	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:96 , 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	chr14:64519200-64533200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
11	chr14:64519600-64539000	Weak transcription	Right Ventricle	heart
12	chr14:64519600-64545200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr14:64519800-64532000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:64519800-64534600	Weak transcription	Fetal Lung	lung
15	chr14:64520400-64537400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:64520400-64539000	Weak transcription	Liver	Liver
17	chr14:64520600-64530000	Weak transcription	GM12878-XiMat	blood
18	chr14:64521000-64529800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:64521000-64540800	Weak transcription	Psoas Muscle	Psoas
20	chr14:64523000-64532200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:64524200-64532000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:64525400-64535400	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr14:64525400-64566600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:64526000-64529800	Enhancers	HMEC	breast
25	chr14:64526000-64552200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:64526600-64529800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:64526600-64536000	Weak transcription	Fetal Brain Female	brain
28	chr14:64526800-64529800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:64526800-64534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:64526800-64539000	Weak transcription	Fetal Thymus	thymus
31	chr14:64526800-64540400	Weak transcription	Fetal Kidney	kidney
32	chr14:64526800-64577000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:64527000-64530000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:64527000-64532200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:64527000-64539600	Weak transcription	Ovary	ovary
36	chr14:64527000-64540200	Weak transcription	Primary B cells from cord blood	blood
37	chr14:64527000-64540800	Weak transcription	Spleen	Spleen
38	chr14:64527000-64547200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:64527200-64529800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:64527200-64539000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:64527400-64534200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr14:64527400-64538400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:64527600-64532800	Weak transcription	Brain Germinal Matrix	brain
44	chr14:64527600-64532800	Weak transcription	Fetal Intestine Large	intestine
45	chr14:64527600-64539000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:64527600-64551800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:64527800-64530000	Weak transcription	Fetal Intestine Small	intestine
48	chr14:64527800-64530800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr14:64527800-64531600	Weak transcription	Fetal Stomach	stomach
50	chr14:64527800-64532200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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